ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter)

dbSNP: rs2131290040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV002275228 SCV002097636 pathogenic 46,XY sex reversal 3 criteria provided, single submitter clinical testing

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