Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001451673 | SCV001655314 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003284334 | SCV003987893 | uncertain significance | Inborn genetic diseases | 2023-06-06 | criteria provided, single submitter | clinical testing | The c.1253G>A (p.G418D) alteration is located in exon 8 (coding exon 8) of the SGSH gene. This alteration results from a G to A substitution at nucleotide position 1253, causing the glycine (G) at amino acid position 418 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |