ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.-6-3C>T

gnomAD frequency: 0.00374  dbSNP: rs140724578
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Total submissions: 9
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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 RCV000217702 SCV000268784 benign not specified 2012-04-30 criteria provided, single submitter clinical testing -6-3C>T in Intron 01 of ACTG1: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (42/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washin
GeneDx RCV000680281 SCV000511965 benign not provided 2016-07-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV002253295 SCV002524523 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253294 SCV002524524 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000680281 SCV004144627 likely benign not provided 2025-05-01 criteria provided, single submitter clinical testing ACTG1: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000680281 SCV005253911 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000680281 SCV001799997 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000217702 SCV001968571 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000680281 SCV002035150 likely benign not provided no assertion criteria provided clinical testing

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