ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.563+313A>G (rs144700226)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776153 SCV000911156 benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000036348 SCV000169034 benign not specified 2014-03-30 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,Partners HealthCare Personalized Medicine RCV000036348 SCV000060000 benign not specified 2015-05-20 criteria provided, single submitter clinical testing p.Ala206Ala in exon 6A of TPM1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (96/16504) of South Asian chro mosomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs144700226).

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