ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.242C>A (p.Pro81Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493060 SCV004235961 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2023-11-08 criteria provided, single submitter clinical testing

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