ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.4676del (p.Glu1559fs)

dbSNP: rs2057789980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091979 SCV001248300 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290595 SCV002581058 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-07-12 criteria provided, single submitter clinical testing

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