Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002173965 | SCV002460967 | likely benign | not provided | 2021-06-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500343 | SCV002811163 | likely benign | Hypophosphatemic nephrolithiasis/osteoporosis 2 | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004651959 | SCV005143880 | uncertain significance | Inborn genetic diseases | 2024-03-20 | criteria provided, single submitter | clinical testing | The c.85C>A (p.H29N) alteration is located in exon 1 (coding exon 1) of the SLC9A3R1 gene. This alteration results from a C to A substitution at nucleotide position 85, causing the histidine (H) at amino acid position 29 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |