ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg)

dbSNP: rs1832496590
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV002275229 SCV002097637 likely pathogenic 46,XY sex reversal 3 criteria provided, single submitter clinical testing

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