ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.831-5C>T (rs56177555)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082205 SCV000114154 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082205 SCV000314367 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082205 SCV000593580 likely benign not specified 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000861255 SCV001001515 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104146 SCV001260987 uncertain significance Bardet-Biedl syndrome 1 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.

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