ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.1340_1341delinsTA (p.Arg447Leu)

dbSNP: rs1860309810
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001089514 SCV001244866 likely pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly 2019-10-10 criteria provided, single submitter clinical testing

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