ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.563G>A (p.Cys188Tyr)

dbSNP: rs2025018868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Endocrinology Clinic, Ege University School of Medicine RCV001268948 SCV001448177 pathogenic Persistent Mullerian duct syndrome no assertion criteria provided clinical testing We report two brothers. Both of them were admitted with unpalpabl testis, undetectable AMH levels, and presence of uterus in USG.

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