ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6029A>G (p.Lys2010Arg)

dbSNP: rs2057692609
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332633 SCV001525012 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2020-06-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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