ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.376G>A (p.Val126Met) (rs193205940)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490511 SCV000267426 uncertain significance Congenital adrenal hypoplasia, X-linked 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV000614813 SCV000730536 benign not specified 2017-03-01 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.
Invitae RCV000864291 SCV001005073 benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal, type 2 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000490511 SCV001141569 benign Congenital adrenal hypoplasia, X-linked 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001574018 SCV001800706 likely benign not provided no assertion criteria provided clinical testing

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