ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.954C>T (p.Thr318=)

gnomAD frequency: 0.00009  dbSNP: rs3211110
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219404 SCV000269978 likely benign not specified 2015-02-12 criteria provided, single submitter clinical testing p.Thr318Thr in exon 5 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (18/8644) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs3211110).
GeneDx RCV000876855 SCV001833086 benign not provided 2019-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054939 SCV002458243 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-11-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253303 SCV002524436 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253302 SCV002524437 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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