Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000662143 | SCV000784486 | uncertain significance | Huntington disease-like 2 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026067 | SCV004889192 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.955C>T (p.R319W) alteration is located in exon 2 (coding exon 2) of the JPH3 gene. This alteration results from a C to T substitution at nucleotide position 955, causing the arginine (R) at amino acid position 319 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |