Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000651400 | SCV000773251 | likely benign | Congenital myasthenic syndrome 8 | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001561020 | SCV001783539 | likely benign | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002531972 | SCV003544847 | uncertain significance | Inborn genetic diseases | 2022-06-03 | criteria provided, single submitter | clinical testing | The c.5095C>T (p.R1699C) alteration is located in exon 29 (coding exon 29) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 5095, causing the arginine (R) at amino acid position 1699 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV001561020 | SCV004032537 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | AGRN: BP4, BS1 |