Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001034529 | SCV001197887 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-05-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003313171 | SCV004012533 | uncertain significance | not provided | 2023-01-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093) |
Ambry Genetics | RCV004030932 | SCV004861254 | uncertain significance | Inborn genetic diseases | 2024-01-23 | criteria provided, single submitter | clinical testing | The c.11365A>G (p.I3789V) alteration is located in exon 60 (coding exon 60) of the DYNC1H1 gene. This alteration results from a A to G substitution at nucleotide position 11365, causing the isoleucine (I) at amino acid position 3789 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |