ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4359+8A>C (rs188675676)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218263 SCV000269282 benign not specified 2015-07-02 criteria provided, single submitter clinical testing c.4359+8A>C in intron 30 of MYH6: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 1.2% (100/8648) of East Asian chromosomes by th e Exome Aggregation Consortium (ExAC,; dbSNP rs18 8675676).
Invitae RCV000839533 SCV000557879 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000839533 SCV000981434 likely benign not provided 2018-03-26 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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