ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8622del (p.Asp2874fs)

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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 RCV003992651 SCV004812159 likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2020-11-26 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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