ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.870+12C>G

gnomAD frequency: 0.00012  dbSNP: rs180859782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001532 SCV001158847 likely benign Spondylocostal dysostosis 1, autosomal recessive 2019-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068774 SCV002448041 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing

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