ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.1113C>T (p.His371=)

gnomAD frequency: 0.00028  dbSNP: rs117765323
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681170 SCV000808628 benign not provided 2018-04-13 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825028 SCV000966225 benign not specified 2018-02-15 criteria provided, single submitter clinical testing p.His371His in Exon 06 of ACTG1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and it has been identified in 0.9% (172/18866) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gn omad.broadinstitute.org/; dbSNP rs117765323).
Labcorp Genetics (formerly Invitae), Labcorp RCV001086055 SCV001017394 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253564 SCV002524421 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253563 SCV002524422 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000681170 SCV005253892 benign not provided criteria provided, single submitter not provided

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