ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.936G>A (p.Arg312=)

gnomAD frequency: 0.00001  dbSNP: rs1555666472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001823360 SCV002072738 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542726 SCV003493831 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2022-08-20 criteria provided, single submitter clinical testing

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