Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001517035 | SCV001725428 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-07-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334567 | SCV002641708 | uncertain significance | Primary ciliary dyskinesia; Inborn genetic diseases | 2019-04-15 | criteria provided, single submitter | clinical testing | The p.S165L variant (also known as c.494C>T), located in coding exon 6 of the OFD1 gene, results from a C to T substitution at nucleotide position 494. The serine at codon 165 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002501798 | SCV002802532 | likely benign | Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 | 2022-03-22 | criteria provided, single submitter | clinical testing |