Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706135 | SCV000835167 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534455 | SCV003738471 | uncertain significance | Inborn genetic diseases | 2022-11-17 | criteria provided, single submitter | clinical testing | The c.2968G>T (p.D990Y) alteration is located in exon 14 (coding exon 13) of the COL12A1 gene. This alteration results from a G to T substitution at nucleotide position 2968, causing the aspartic acid (D) at amino acid position 990 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003144567 | SCV003831216 | uncertain significance | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000706135 | SCV002075073 | not provided | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 04-08-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Genome |
RCV002508944 | SCV002818343 | not provided | Bethlem myopathy 2; Ullrich congenital muscular dystrophy | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 09-14-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |