ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.51C>T (p.Cys17=)

gnomAD frequency: 0.00002  dbSNP: rs201570725
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Total submissions: 2
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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 RCV000215670 SCV000269974 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing p.Cys17Cys in exon 2 of ACTG1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 5/8644 East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs201570725).
Labcorp Genetics (formerly Invitae), Labcorp RCV003765361 SCV004581614 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-12-09 criteria provided, single submitter clinical testing

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