Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585272 | SCV000692704 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000585272 | SCV001059265 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024651 | SCV004858530 | uncertain significance | not specified | 2021-06-18 | criteria provided, single submitter | clinical testing | The c.4041C>A (p.S1347R) alteration is located in exon 21 (coding exon 19) of the DNHD1 gene. This alteration results from a C to A substitution at nucleotide position 4041, causing the serine (S) at amino acid position 1347 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |