ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.390del (p.Pro131fs)

dbSNP: rs606231207
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013654 SCV000033901 pathogenic 46,XY sex reversal 3 2009-03-19 no assertion criteria provided literature only
OMIM RCV000013655 SCV000033902 pathogenic Premature ovarian failure 7 2009-03-19 no assertion criteria provided literature only

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