ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2350G>A (p.Glu784Lys) (rs368949465)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218746 SCV000270562 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing p.Glu784Lys in exon 16 of MYOM1: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (60/16544) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs368949465).
Invitae RCV000865364 SCV001006317 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing

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