ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.831G>A (p.Pro277=)

gnomAD frequency: 0.00022  dbSNP: rs370941478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253592 SCV000311043 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058189 SCV002361546 likely benign Holoprosencephaly 2 2024-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417858 SCV004146027 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SIX3: BP4, BP7

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