Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ce |
RCV004705473 | SCV006097982 | likely benign | not provided | 2025-05-01 | criteria provided, single submitter | clinical testing | GDF6: BS2 |
| Breakthrough Genomics, |
RCV004705473 | SCV005223926 | likely benign | not provided | criteria provided, single submitter | not provided | ||
| Labcorp Genetics |
RCV000878422 | SCV001021325 | benign | Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 | 2025-01-29 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000264823 | SCV000475546 | likely benign | Klippel-Feil syndrome 1, autosomal dominant | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |