ClinVar Miner

Submissions for variant NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg)

dbSNP: rs1938280351
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280849 SCV001468193 uncertain significance Bardet-Biedl syndrome 19 2020-07-02 no assertion criteria provided clinical testing

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