Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001423298 | SCV001625873 | likely benign | Townes syndrome | 2018-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000983808 | SCV001831503 | benign | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002550579 | SCV003711354 | uncertain significance | Inborn genetic diseases | 2022-11-10 | criteria provided, single submitter | clinical testing | The c.2752G>A (p.A918T) alteration is located in exon 2 (coding exon 2) of the SALL1 gene. This alteration results from a G to A substitution at nucleotide position 2752, causing the alanine (A) at amino acid position 918 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |