ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.1636-6G>C

dbSNP: rs2066012194
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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 RCV001253249 SCV001428871 uncertain significance Ritscher-Schinzel syndrome 2 2018-07-24 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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