Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002804510 | SCV003598004 | uncertain significance | Inborn genetic diseases | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.2483G>A (p.S828N) alteration is located in exon 22 (coding exon 22) of the PHIP gene. This alteration results from a G to A substitution at nucleotide position 2483, causing the serine (S) at amino acid position 828 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003135240 | SCV003812838 | uncertain significance | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing |