ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)

dbSNP: rs1490785954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667304 SCV000791735 uncertain significance Bardet-Biedl syndrome 12 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001855478 SCV002212499 uncertain significance Bardet-Biedl syndrome 2021-08-28 criteria provided, single submitter clinical testing This variant, c.1681_1683del, results in the deletion of 1 amino acid(s) of the BBS12 protein (p.Glu561del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 552099). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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