ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5514G>T (p.Ser1838=) (rs727503232)

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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 RCV000151211 SCV000199047 likely benign not specified 2013-04-20 criteria provided, single submitter clinical testing Ser1838Ser in exon 36 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Ser1838Ser in exon 36 of MYH6 (allele frequ ency = n/a)
Invitae RCV000829203 SCV000768887 likely benign not provided 2018-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000829203 SCV000970919 likely benign not provided 2018-05-15 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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