Prioritization rules

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Jianhua Zhao

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Feb 20, 2025, 4:32:48 PMFeb 20

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Hi there,

When I review priorization rules, I wonder if you would consider adding delin, how delin vs deletion and substitution, delin vs inversion are prioritized.

Thanks very much and please feel free to reach out if you have any question

All the best,

Jianhua

Jianhua Zhao PhD FACMG

Oncology-Clinical Operations Lead

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Johan den Dunnen

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Feb 24, 2025, 8:54:00 AMFeb 24

to HGVS Nomenclature

Dear Jianhua,

regarding your question, since a deletion-insterion variant ("delins") is a combination of two other variant categories (a deletion combined with an insertion) it has to be prioritized last, so at position 6 in the list you give.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op donderdag 20 februari 2025 om 22:32:48 UTC+1 schreef jianhu...@invitae.com:

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