ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.559+6C>T (rs199474709)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036032 SCV000059684 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing The 559+6C>T variant (MYL3) has been reported in one individual with HCM (Morita 2008) but was also detected in 0.18% (7/3738) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs199474709). This frequency suggests that the variant is more likely benign although a modifying role cannot be excluded.
GeneDx RCV000036032 SCV000170569 benign not specified 2011-07-16 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 RCV001085158 SCV000560092 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001175856 SCV001339635 benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYL3) RCV000024472 SCV000045776 not provided not provided 2012-03-18 no assertion provided curation

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