ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)

dbSNP: rs2149303084
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001839061 SCV002098950 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-02-24 no assertion criteria provided literature only

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