ClinVar Miner

Submissions for variant NM_006495.4(EVI2B):c.157G>A (p.Gly53Arg)

gnomAD frequency: 0.00823  dbSNP: rs9903564
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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 RCV000443438 SCV000510603 likely benign not provided 2016-10-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000443438 SCV001122113 benign not provided 2019-01-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000443438 SCV005212434 likely benign not provided criteria provided, single submitter not provided

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