ClinVar Miner

Submissions for variant NM_031885.3(BBS2):c.-239G>A

gnomAD frequency: 0.19980  dbSNP: rs2303284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259635 SCV000483541 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683466 SCV001904939 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683466 SCV005216492 likely benign not provided criteria provided, single submitter not provided

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