ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.942G>A (p.Gln314=)

gnomAD frequency: 0.00008  dbSNP: rs201103618
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516790 SCV001725139 benign Oligosynaptic infertility; 46,XY disorder of sex development 2018-11-08 criteria provided, single submitter clinical testing

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