ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4069+13C>A (rs948298)

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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 RCV000216769 SCV000269362 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 4069+13C>A in intron 28 of MYOM1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 20.3% (1647/8114) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs948298).

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