ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile) (rs201016285)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756392 SCV000884191 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244312 SCV000319078 likely benign Cardiovascular phenotype 2013-11-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
GeneDx RCV000155802 SCV000515729 benign not specified 2017-01-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000349141 SCV000385594 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398072 SCV000385595 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309723 SCV000385596 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469730 SCV000557918 benign Familial hypertrophic cardiomyopathy 14 2017-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155802 SCV000205513 benign not specified 2015-04-02 criteria provided, single submitter clinical testing p.Met1431Ile in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.8% (210/11576) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201016285).

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