ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.171+19C>T

gnomAD frequency: 0.01551  dbSNP: rs12269637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001691729 SCV001912465 benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001691729 SCV002432866 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260356 SCV002539331 benign Inclusion body myopathy and brain white matter abnormalities 2021-12-05 criteria provided, single submitter clinical testing

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