Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414720 | SCV000491989 | uncertain significance | not provided | 2019-10-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002058868 | SCV002396624 | likely benign | Jeune thoracic dystrophy | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002523953 | SCV003638460 | uncertain significance | Inborn genetic diseases | 2022-05-25 | criteria provided, single submitter | clinical testing | The c.6625A>T (p.T2209S) alteration is located in exon 41 (coding exon 41) of the DYNC2H1 gene. This alteration results from a A to T substitution at nucleotide position 6625, causing the threonine (T) at amino acid position 2209 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |