ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.666T>C (p.Tyr222=)

gnomAD frequency: 0.00001  dbSNP: rs753217975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001699874 SCV001925930 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727952 SCV001970675 likely benign not provided no assertion criteria provided clinical testing

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