ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)

gnomAD frequency: 0.00005  dbSNP: rs132630327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496328 SCV002812330 uncertain significance Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2021-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002496328 SCV004567911 benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-01-31 criteria provided, single submitter clinical testing
OMIM RCV000011725 SCV000031957 uncertain significance Mineralocorticoid deficiency, isolated 2007-03-01 no assertion criteria provided literature only

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