Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000951885 | SCV001098334 | likely benign | Amyotrophic lateral sclerosis type 21 | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000951885 | SCV003808298 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169466 | SCV003888501 | uncertain significance | Inborn genetic diseases | 2023-03-06 | criteria provided, single submitter | clinical testing | The c.2318A>C (p.Y773S) alteration is located in exon 16 (coding exon 12) of the MATR3 gene. This alteration results from a A to C substitution at nucleotide position 2318, causing the tyrosine (Y) at amino acid position 773 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |