ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5071A>G (p.Thr1691Ala)

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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 RCV003133973 SCV003812729 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2020-02-06 criteria provided, single submitter clinical testing

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