ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.*187dup

gnomAD frequency: 0.19865  dbSNP: rs386401352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315909 SCV000447432 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing

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