ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4371-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796496 SCV005416239 likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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