ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.947+4_947+7del (rs1572817589)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198285 SCV001369165 uncertain significance Gonadotropin-independent familial sexual precocity 2019-02-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027712 SCV001190294 likely pathogenic Leydig cell hypoplasia, type 1 2019-08-09 no assertion criteria provided clinical testing

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