ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.375-3C>T (rs202228866)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154861 SCV000204543 likely benign not specified 2014-08-26 criteria provided, single submitter clinical testing c.375-3C>T in intron 3 of TPM1: This variant is not expected to have clinical si gnificance because it does not cause the splice site sequence to diverge from co nsensus. It has been identified in 2/8600 of European American chromosomes by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs202 228866).
Blueprint Genetics RCV000154861 SCV000264263 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000154861 SCV000514947 benign not specified 2015-03-17 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.
Invitae RCV000534193 SCV000623802 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622027 SCV000740169 benign Cardiovascular phenotype 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,In silico models in agreement (benign)
Color RCV000771257 SCV000903368 benign Cardiomyopathy 2018-06-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157544 SCV000207290 uncertain significance Catecholaminergic polymorphic ventricular tachycardia type 1 2014-08-22 no assertion criteria provided clinical testing

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