ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7452+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468878 SCV002765081 likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-11-25 criteria provided, single submitter clinical testing _x000D_This variant was identified as compound heterozygous with NM_005559.4:c.2932_2933delAAinsG Criteria applied: PVS1, PM3, PM2_SUP

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