ClinVar Miner

Submissions for variant NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn)

gnomAD frequency: 0.00350  dbSNP: rs141146885
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245427 SCV000307864 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514478 SCV000610850 likely benign not provided 2017-09-08 criteria provided, single submitter clinical testing
Invitae RCV000514478 SCV001111602 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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