ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4622G>T (p.Arg1541Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142332 SCV003807866 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-11-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP2 supporting, PP3 supporting

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