Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085941 | SCV000253634 | likely benign | Bardet-Biedl syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Soonchunhyang University Bucheon Hospital, |
RCV000490439 | SCV000267222 | likely pathogenic | Bardet-Biedl syndrome 4 | 2016-03-18 | criteria provided, single submitter | reference population | |
Prevention |
RCV000246726 | SCV000315045 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Mendelics | RCV000490439 | SCV001139651 | benign | Bardet-Biedl syndrome 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000490439 | SCV001277067 | uncertain significance | Bardet-Biedl syndrome 4 | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132689 | SCV000172642 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. |