ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5400C>T (p.Asp1800=) (rs144329079)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724395 SCV000229825 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000037531 SCV000534032 likely benign not specified 2018-02-09 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 RCV000475890 SCV000557930 benign Familial hypertrophic cardiomyopathy 14 2017-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037531 SCV000061189 benign not specified 2012-02-07 criteria provided, single submitter clinical testing Benign based on high population frequency (17/3755 chromosomes).

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