ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.228C>T (p.Val76=)

gnomAD frequency: 0.00055  dbSNP: rs143028649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591445 SCV000707533 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV001087735 SCV001016720 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000591445 SCV001841971 benign not provided 2020-02-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821729 SCV002069279 likely benign not specified 2020-03-04 criteria provided, single submitter clinical testing

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