ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.339C>T (p.Thr113=)

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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 RCV002917707 SCV003251485 benign not provided 2023-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002917707 SCV005074626 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ATP6V1A: BP4, BP7

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