ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.138G>A (p.Pro46=)

gnomAD frequency: 0.00001  dbSNP: rs987371248
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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 RCV001286932 SCV001473561 likely benign Spondylocostal dysostosis 1, autosomal recessive 2020-04-17 criteria provided, single submitter clinical testing
Invitae RCV001486936 SCV001691417 likely benign not provided 2023-08-09 criteria provided, single submitter clinical testing

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