ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)

dbSNP: rs587777132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095478 SCV001251023 pathogenic Amyotrophic lateral sclerosis type 2, juvenile 2020-03-31 criteria provided, single submitter research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001095478 SCV004801140 pathogenic Amyotrophic lateral sclerosis type 2, juvenile 2024-03-14 criteria provided, single submitter research
OMIM RCV000087053 SCV000119867 pathogenic Infantile-onset ascending hereditary spastic paralysis 2014-02-15 no assertion criteria provided literature only
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171328 SCV000221525 likely pathogenic not provided flagged submission research

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