ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.197G>A (p.Arg66His)

gnomAD frequency: 0.00001  dbSNP: rs199545573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791030 SCV000930297 uncertain significance Ritscher-Schinzel syndrome 2 2019-04-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457796 SCV004184895 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing

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