Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001060148 | SCV001224815 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004031910 | SCV004861253 | uncertain significance | Inborn genetic diseases | 2024-01-23 | criteria provided, single submitter | clinical testing | The c.10987A>G (p.T3663A) alteration is located in exon 58 (coding exon 58) of the DYNC1H1 gene. This alteration results from a A to G substitution at nucleotide position 10987, causing the threonine (T) at amino acid position 3663 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |