ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) (rs397516720)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618883 SCV000736348 uncertain significance Cardiovascular phenotype 2016-05-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Blueprint Genetics RCV000157276 SCV000207007 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing
GeneDx RCV000037345 SCV000250529 likely benign not specified 2018-02-28 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 RCV000037345 SCV000061002 likely benign not specified 2016-08-03 criteria provided, single submitter clinical testing p.Asp660Tyr in exon 16 of LAMA4 : This variant is not expected to have clinical significance because it has been identified in 0.8% (125/16508) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs397516720).

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