ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp)

gnomAD frequency: 0.00003  dbSNP: rs1031657486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253075 SCV001428598 uncertain significance Ritscher-Schinzel syndrome 2 2017-03-09 criteria provided, single submitter clinical testing

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