ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.719C>T (p.Pro240Leu)

gnomAD frequency: 0.00450  dbSNP: rs141614470
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Total submissions: 5
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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 RCV000514606 SCV000610919 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514606 SCV001043836 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514606 SCV005262432 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000514606 SCV001925373 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727738 SCV001973472 benign not specified no assertion criteria provided clinical testing

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