ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.385+6_385+15del

dbSNP: rs72275336
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522831 SCV001732446 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001522831 SCV001940739 benign not provided 2018-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155414 SCV003844660 benign not specified 2023-02-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001522831 SCV001744390 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001522831 SCV001806959 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001836439 SCV002078217 benign Chorea-acanthocytosis 2019-09-27 no assertion criteria provided clinical testing

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