ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1449C>T (p.Asn483=) (rs145447555)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769422 SCV000900815 uncertain significance Cardiomyopathy 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000037443 SCV000714315 benign not specified 2017-04-18 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.
Invitae RCV000229778 SCV000287395 benign Familial hypertrophic cardiomyopathy 14 2017-03-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037443 SCV000061101 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Asn483Asn in Exon 14 of MYH6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.9% (32/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs145447555).

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