Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001306752 | SCV001496134 | likely benign | Schimke immuno-osseous dysplasia | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001306752 | SCV002784723 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002543177 | SCV003749144 | uncertain significance | Inborn genetic diseases | 2021-07-06 | criteria provided, single submitter | clinical testing | The c.448G>T (p.A150S) alteration is located in exon 3 (coding exon 1) of the SMARCAL1 gene. This alteration results from a G to T substitution at nucleotide position 448, causing the alanine (A) at amino acid position 150 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |