ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.471C>T (p.Asp157=) (rs11549222)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037124 SCV000060781 benign not specified 2013-01-17 criteria provided, single submitter clinical testing Asp157Asp in exon 4 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 it has been identified in 0.5% (39/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs11549222)
Invitae RCV000555623 SCV000652319 benign Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 2017-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000037124 SCV000728687 benign not specified 2017-02-06 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.
Genetic Services Laboratory, University of Chicago RCV000037124 SCV000150147 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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