ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4959+12C>T (rs371661383)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037522 SCV000061180 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 4959+12C>T in intron 33 of MYH6: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/7020 European American chromosomes from a broad populati on by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). 49 59+12C>T in intron 33 of MYH6 (allele frequency = 1/7020) **
Illumina Clinical Services Laboratory,Illumina RCV000398944 SCV000385555 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311081 SCV000385556 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368133 SCV000385557 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000037522 SCV000725382 likely benign not specified 2017-12-06 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.

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