Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542235 | SCV000628124 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002528309 | SCV003738033 | uncertain significance | Inborn genetic diseases | 2021-07-09 | criteria provided, single submitter | clinical testing | The c.727C>T (p.P243S) alteration is located in exon 6 (coding exon 6) of the IDS gene. This alteration results from a C to T substitution at nucleotide position 727, causing the proline (P) at amino acid position 243 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Diagnostic Laboratory, |
RCV001529914 | SCV001744222 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529914 | SCV001973266 | likely benign | not provided | no assertion criteria provided | clinical testing |