ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.313_314insCCC (p.Val105delinsAlaLeu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337880 SCV004048271 uncertain significance Bardet-Biedl syndrome 2 criteria provided, single submitter clinical testing The variant c.313_314insCCC (p.Val105delinsAlaLeu) in BBS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val105delinsAlaLeu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The variant is an indel variant. For these reasons, this variant has been classified as Uncertain Significance.

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