Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV001270190 | SCV001364321 | likely pathogenic | Premature ovarian failure | 2020-03-02 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002560184 | SCV003731536 | uncertain significance | Inborn genetic diseases | 2021-08-16 | criteria provided, single submitter | clinical testing | The c.681T>G (p.H227Q) alteration is located in exon 5 (coding exon 5) of the NR5A2 gene. This alteration results from a T to G substitution at nucleotide position 681, causing the histidine (H) at amino acid position 227 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |