ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.643-102T>C

gnomAD frequency: 0.54330  dbSNP: rs6495015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553957 SCV001775080 benign Bardet-Biedl syndrome 4 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716775 SCV005295381 benign not provided criteria provided, single submitter not provided

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