ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6191-29G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989962 SCV004806108 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2024-03-25 criteria provided, single submitter clinical testing

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