ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.171+95A>G

gnomAD frequency: 0.06581  dbSNP: rs2789689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001714165 SCV001941342 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260376 SCV002539332 benign Inclusion body myopathy and brain white matter abnormalities 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001714165 SCV005318289 benign not provided criteria provided, single submitter not provided

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