ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1843+10T>G (rs116743447)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231246 SCV000287985 benign Hypertrophic cardiomyopathy 2017-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217296 SCV000269345 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 1843+10T>G in intron 12 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 0.9% (32/3714) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs116743447).

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