ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2216G>A (p.Cys739Tyr)

dbSNP: rs1555656402
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626143 SCV000746774 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2020-05-03 criteria provided, single submitter clinical testing

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