ClinVar Miner

Submissions for variant NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) (rs61733673)

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Total submissions: 4
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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 RCV000513911 SCV000610966 likely benign not provided 2017-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000437013 SCV000524517 benign not specified 2016-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000406932 SCV000450004 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648111 SCV000769921 benign Congenital disorder of glycosylation type 1Q 2017-11-08 criteria provided, single submitter clinical testing

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