ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.1287T>C (p.Val429=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003093161 SCV003483509 benign not provided 2024-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963641 SCV004777868 likely benign ATP6V1A-related disorder 2023-04-12 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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