ClinVar Miner

Submissions for variant NM_001079843.3(CASZ1):c.5127CGA[2] (p.Asp1711_Asp1712del)

dbSNP: rs201089181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001608572 SCV001835394 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001608572 SCV002406112 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Phenosystems SA RCV002292649 SCV002011879 likely pathogenic Neutrophil inclusion bodies no assertion criteria provided research

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