ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.616T>G (p.Leu206Val) (rs146052054)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455067 SCV000538394 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 0.07% in European with 1 homozygote, not in ClinVar. DM? in HGMD. OB 8/24/15: Has been reported in 1 patient with BBS who had 2 other variants in BBS1 (Janssen 2011). Agree that it is VUS4.
Invitae RCV001081824 SCV000563594 likely benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726642 SCV000701906 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001107785 SCV001264963 uncertain significance Bardet-Biedl syndrome 1 2017-11-19 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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