ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.6558T>C (p.Val2186=)

gnomAD frequency: 0.00018  dbSNP: rs112596608
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867977 SCV001009258 likely benign not provided 2025-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000867977 SCV005226534 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001825734 SCV002078272 likely benign Chorea-acanthocytosis 2021-09-01 no assertion criteria provided clinical testing

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