ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.612+1G>A

dbSNP: rs1964531402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV004574013 SCV007525008 likely pathogenic Bardet-Biedl syndrome 2 2025-11-21 criteria provided, single submitter clinical testing The c.612+1G>A variant in BBS2 is a canonical splice donor site variant predicted to affect pre-mRNA splicing, which may result in an abnormal transcript and altered protein product. This variant may result in a truncated or dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 27659767, 25170860). Given the available evidence, this variant is classified as Likely Pathogenic.
Baylor Genetics RCV004574013 SCV005054706 pathogenic Bardet-Biedl syndrome 2 2024-03-11 criteria provided, single submitter clinical testing

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