ClinVar Miner

Submissions for variant NM_001385641.1(SAMD11):c.2178+12C>G

gnomAD frequency: 0.00089  dbSNP: rs202118659
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001519663 SCV001728560 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Phenosystems SA RCV002292645 SCV002011877 uncertain significance Neutrophil inclusion bodies no assertion criteria provided research

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