ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.-3A>G

gnomAD frequency: 0.00003  dbSNP: rs771900208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730486 SCV000858224 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477700 SCV002779004 uncertain significance Bardet-Biedl syndrome 4 2022-01-06 criteria provided, single submitter clinical testing

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