ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys)

dbSNP: rs2131289790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001823017 SCV002072521 likely pathogenic 46,XY sex reversal 3 2022-01-06 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD, PM1, PS3_SUP, PS4_SUP, PM2_SUP, PP3

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