ClinVar Miner

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

gnomAD frequency: 0.16235  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
Genome-Nilou Lab RCV001526783 SCV001737389 benign Bardet-Biedl syndrome 2 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526784 SCV001737390 benign Retinitis pigmentosa 74 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001712945 SCV001942094 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712945 SCV005292128 benign not provided criteria provided, single submitter not provided

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