ClinVar Miner

Submissions for variant NM_006331.8(EMG1):c.38G>T (p.Arg13Leu)

gnomAD frequency: 0.00869  dbSNP: rs36061201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514815 SCV000610636 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514815 SCV001029809 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514815 SCV005213714 likely benign not provided criteria provided, single submitter not provided

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