ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.858+55G>A

gnomAD frequency: 0.43337  dbSNP: rs2573348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617250 SCV001846595 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260233 SCV002539317 benign Inclusion body myopathy and brain white matter abnormalities 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001617250 SCV005318268 benign not provided criteria provided, single submitter not provided

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