ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.613-54C>G

gnomAD frequency: 0.16425  dbSNP: rs4784675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001712945 SCV005292128 benign not provided criteria provided, single submitter not provided
GeneDx RCV001712945 SCV001942094 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526784 SCV001737390 benign Retinitis pigmentosa 74 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526783 SCV001737389 benign Bardet-Biedl syndrome 2 2021-06-10 criteria provided, single submitter clinical testing

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