ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.126C>T (p.Gly42=) (rs11549197)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420872 SCV000516400 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825693 SCV000967134 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly42Gly in Exon 03 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2/7018 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs11549197).
Invitae RCV001082075 SCV001015577 likely benign Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000420872 SCV001142900 benign not provided 2019-07-09 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000420872 SCV001959474 likely benign not provided no assertion criteria provided clinical testing

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