ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.864G>A (p.Ala288=)

gnomAD frequency: 0.00022  dbSNP: rs141345544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638350 SCV000759846 likely benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001537497 SCV001754384 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
New York Genome Center RCV002467947 SCV002764484 uncertain significance Bardet-Biedl syndrome 4 2021-12-20 criteria provided, single submitter clinical testing

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