Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545345 | SCV000640937 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000660547 | SCV000782655 | uncertain significance | Congenital myasthenic syndrome 10 | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532503 | SCV001748097 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001532503 | SCV001813373 | uncertain significance | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002528401 | SCV003683522 | uncertain significance | Inborn genetic diseases | 2022-04-14 | criteria provided, single submitter | clinical testing | The c.1171G>A (p.G391R) alteration is located in exon 7 (coding exon 7) of the DOK7 gene. This alteration results from a G to A substitution at nucleotide position 1171, causing the glycine (G) at amino acid position 391 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001532503 | SCV003832198 | uncertain significance | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing |