ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.615+20G>C

gnomAD frequency: 0.07780  dbSNP: rs17723908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543933 SCV001762834 likely benign Chorea-acanthocytosis 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001685482 SCV001896351 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001685482 SCV002321032 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685482 SCV005226499 likely benign not provided criteria provided, single submitter not provided

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