ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4884-121A>G

gnomAD frequency: 0.70554  dbSNP: rs9919223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554563 SCV001775817 benign Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715523 SCV005285956 benign not provided criteria provided, single submitter not provided

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