Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996269 | SCV001150918 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067616 | SCV002439792 | likely benign | Townes syndrome | 2022-06-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549932 | SCV003640371 | uncertain significance | Inborn genetic diseases | 2022-11-07 | criteria provided, single submitter | clinical testing | The c.3964G>A (p.V1322I) alteration is located in exon 3 (coding exon 3) of the SALL1 gene. This alteration results from a G to A substitution at nucleotide position 3964, causing the valine (V) at amino acid position 1322 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |