ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2928+5G>A (rs28730772)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248019 SCV000318283 uncertain significance Cardiovascular phenotype 2017-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770448 SCV000901891 likely benign Cardiomyopathy 2017-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000037464 SCV000527900 likely benign not specified 2017-12-07 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 RCV000287357 SCV000385693 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340080 SCV000385694 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404079 SCV000385695 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590639 SCV000697924 benign not provided 2016-02-29 criteria provided, single submitter clinical testing Variant summary: The c.2928+5G>A variant affects a conserved intronic nucleotide. One in-silico tool predicts damaging outcome for this variant. 4/5 programs in Alamut predict that this variant does not significantly affect normal splicing. This variant is found in 214/121412 control chromosomes at a frequency of 0.0017626, which exceeds the predicted maximal expected frequency of a pathogenic allele (0.000025), suggesting this variant is benign. This variant has been reported in DCM and HCM patients, including one patient who also carries a TTN c.39069T>A/p.Tyr13023X (classified likely pathogenic in ClinVar). In addition, one clinical laboratory classified this variant as likely benign. Taken together, this variant was classified as benign.
Invitae RCV000230824 SCV000287401 likely benign Familial hypertrophic cardiomyopathy 14 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037464 SCV000061122 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing c.2829+5G>A in intron 22 of MYH6: This variant is not expected to have clinical significance because it has been identified in 0.3% (190/66740) European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28730772).
Phosphorus, Inc. RCV000577962 SCV000679869 benign Atrial septal defect 3 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578015 SCV000679870 benign Dilated cardiomyopathy 1EE 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000230824 SCV000679871 benign Familial hypertrophic cardiomyopathy 14 2017-08-01 criteria provided, single submitter clinical testing

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