ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.2171-62C>T

gnomAD frequency: 0.54921  dbSNP: rs3731703
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548878 SCV001768874 benign Amyotrophic lateral sclerosis type 2, juvenile 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548879 SCV001768875 benign Juvenile primary lateral sclerosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548880 SCV001768876 benign Infantile-onset ascending hereditary spastic paralysis 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655873 SCV001868474 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655873 SCV005240261 benign not provided criteria provided, single submitter not provided

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