ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.941-20G>A

gnomAD frequency: 0.00001  dbSNP: rs760109919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893310 SCV002165724 uncertain significance Bardet-Biedl syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the BBS2 gene. It does not directly change the encoded amino acid sequence of the BBS2 protein. This variant is present in population databases (rs760109919, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1391874). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002482720 SCV002776242 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-03-09 criteria provided, single submitter clinical testing

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