ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.551_552del (p.Lys184fs)

dbSNP: rs1555973115
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000513078 SCV000608382 pathogenic Congenital adrenal hypoplasia, X-linked 2017-09-20 criteria provided, single submitter clinical testing

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