ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val)

dbSNP: rs2148497936
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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 RCV002244238 SCV002512634 uncertain significance Cerebellar ataxia; Peripheral neuropathy 2021-07-27 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP2 supporting, BP4 supporting

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