ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.549T>C (p.Pro183=)

dbSNP: rs886044848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305985 SCV000339621 uncertain significance not provided 2016-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001476279 SCV001680485 likely benign X-linked Emery-Dreifuss muscular dystrophy 2022-07-18 criteria provided, single submitter clinical testing

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