ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.990G>A (p.Glu330=)

dbSNP: rs1588618614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824833 SCV000965724 likely pathogenic 46,XY sex reversal 3 2015-01-01 criteria provided, single submitter clinical testing
Institute of Reproductive Genetics, University of Münster RCV001644835 SCV001860301 likely pathogenic Non-obstructive azoospermia 2022-03-16 criteria provided, single submitter research

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