ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.*8T>C (rs201560522)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154665 SCV000513794 benign not specified 2016-11-18 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.
Integrated Genetics/Laboratory Corporation of America RCV000154665 SCV000919831 benign not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The MYH6 c.*8T>C variant involves the alteration of a non-conserved nucleotide in the 3' UTR. This variant was found in 109/277228 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.004411 (106/24030). This frequency is about 176 times the estimated maximal expected allele frequency of a pathogenic MYH6 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154665 SCV000204342 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing c.*8T>C in the 3' UTR of MYH6: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (53/10406) of African chromoso mes by the Exome Aggregation Constortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201560522).

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