ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8557-1G>C

dbSNP: rs797045183
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab, Seattle Children's Research Institute RCV000191928 SCV000246153 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2014-11-25 criteria provided, single submitter research Two maternal variants; not enough info to determine which pathogenic

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