Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003266567 | SCV003969092 | uncertain significance | Inborn genetic diseases | 2023-04-20 | criteria provided, single submitter | clinical testing | The c.2371T>C (p.Y791H) alteration is located in exon 3 (coding exon 1) of the SAMD9 gene. This alteration results from a T to C substitution at nucleotide position 2371, causing the tyrosine (Y) at amino acid position 791 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |