ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys)

gnomAD frequency: 0.00001  dbSNP: rs774307423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784990 SCV000923537 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2019-01-01 criteria provided, single submitter clinical testing

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