Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732953 | SCV000860955 | benign | not specified | 2018-06-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000830594 | SCV000972329 | likely benign | not provided | 2020-09-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000830594 | SCV001069079 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000732953 | SCV001476347 | benign | not specified | 2020-07-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535305 | SCV003677258 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.52A>T (p.T18S) alteration is located in exon 1 (coding exon 1) of the COL11A1 gene. This alteration results from a A to T substitution at nucleotide position 52, causing the threonine (T) at amino acid position 18 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |