ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.1095G>A (p.Ser365=)

gnomAD frequency: 0.00003  dbSNP: rs201121917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732180 SCV000860100 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000732180 SCV001758279 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061007 SCV002405824 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-11-11 criteria provided, single submitter clinical testing

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