ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.915C>T (p.Tyr305=)

gnomAD frequency: 0.00004  dbSNP: rs372702131
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124348 SCV002444049 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146518 SCV003834712 uncertain significance Spondylocostal dysostosis 1, autosomal recessive 2022-03-10 criteria provided, single submitter clinical testing

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