ClinVar Miner

Submissions for variant NM_001177701.3(IFT27):c.174+21G>A

gnomAD frequency: 0.75738  dbSNP: rs1048012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001703298 SCV001933293 benign Bardet-Biedl syndrome 19 2021-08-10 criteria provided, single submitter clinical testing

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