ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.290+14C>G (rs7232679)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219214 SCV000269357 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 290+14C>G in intron 2 of MYOM1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 35.1% (1424/4058) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs7232679).

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