ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.1281C>A (p.Cys427Ter)

gnomAD frequency: 0.00001  dbSNP: rs1457194859
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity RCV001421036 SCV001623459 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-05-21 no assertion criteria provided clinical testing

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