ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.732C>T (p.Arg244=) (rs397516779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461919 SCV000557931 likely benign Familial hypertrophic cardiomyopathy 14 2016-12-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037539 SCV000061197 likely benign not specified 2011-12-01 criteria provided, single submitter clinical testing Arg244Arg in exon 8 of MYH7: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Arg244Arg in exon 8 of MYH7 (allele frequency = n/a)

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