Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071334 | SCV001236630 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772307 | SCV001994625 | uncertain significance | not provided | 2021-02-01 | 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 | RCV002554624 | SCV003555630 | uncertain significance | Inborn genetic diseases | 2020-12-18 | criteria provided, single submitter | clinical testing | The c.4768G>C (p.D1590H) alteration is located in exon 23 (coding exon 23) of the DYNC1H1 gene. This alteration results from a G to C substitution at nucleotide position 4768, causing the aspartic acid (D) at amino acid position 1590 to be replaced by a histidine (H). The in silico prediction for the p.D1590H alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |