ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.8211+5G>A

gnomAD frequency: 0.00002  dbSNP: rs183316143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869065 SCV001010461 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277457 SCV001464408 likely benign Chorea-acanthocytosis 2020-08-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908251 SCV004719822 likely benign VPS13A-related disorder 2019-06-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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