ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.124-8C>T

dbSNP: rs201279208
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Total submissions: 6
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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 RCV000214031 SCV000268783 benign not specified 2015-07-01 criteria provided, single submitter clinical testing c.124-8C>T in intron 2 of ACTG1: This variant is not expected to have clinical significance because it has been identified in 0.6% (105/16508) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs201279208). In addition, a C>T change at this position does not di verge from the splice consensus sequence and is therefore unlikely to impact spl icing.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000214031 SCV001159898 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001668376 SCV001884383 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054366 SCV002360529 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253293 SCV002524501 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253292 SCV002524502 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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