ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.5613C>T (p.Phe1871=)

gnomAD frequency: 0.00006  dbSNP: rs139782359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001425527 SCV001628156 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001425527 SCV004157851 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing VPS13A: BP4, BP7

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