ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1451-45T>C

gnomAD frequency: 0.08550  dbSNP: rs75847960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252664 SCV000315046 likely benign not specified criteria provided, single submitter clinical testing
GeneReviews RCV000020936 SCV000041552 benign Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Benign.

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