ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.1540-18T>C

gnomAD frequency: 0.50585  dbSNP: rs2294021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353781 SCV000337736 benign not specified 2015-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554713 SCV001775999 benign Ritscher-Schinzel syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713476 SCV005277813 benign not provided criteria provided, single submitter not provided

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