ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.718-34G>A

gnomAD frequency: 0.03789  dbSNP: rs79900021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251127 SCV000314814 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533781 SCV001750602 likely benign Bardet-Biedl syndrome 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533782 SCV001750603 likely benign Retinitis pigmentosa 74 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001651258 SCV001869876 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651258 SCV005216485 likely benign not provided criteria provided, single submitter not provided

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