ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.16C>A (p.His6Asn)

gnomAD frequency: 0.00118  dbSNP: rs191365011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000871426 SCV000513953 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Invitae RCV002061448 SCV002331760 benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521529 SCV003698461 uncertain significance Inborn genetic diseases 2021-10-18 criteria provided, single submitter clinical testing The c.16C>A (p.H6N) alteration is located in exon 1 (coding exon 1) of the NR0B1 gene. This alteration results from a C to A substitution at nucleotide position 16, causing the histidine (H) at amino acid position 6 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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