ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5112G>A (p.Ala1704=) (rs150450178)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618953 SCV000735598 likely benign Cardiovascular phenotype 2016-11-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000217428 SCV000729169 likely benign not specified 2018-03-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000366308 SCV000385540 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274049 SCV000385541 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331423 SCV000385542 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463413 SCV000557868 likely benign Familial hypertrophic cardiomyopathy 14 2017-06-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217428 SCV000270453 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala1704Ala in exon 34 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 24/66606 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs150450178).

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