ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.4581-7A>G

gnomAD frequency: 0.00827  dbSNP: rs114458388
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310484 SCV000426281 likely benign Amyotrophic lateral sclerosis type 2, juvenile 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000365254 SCV000426282 likely benign ALS2-related disorder 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000861830 SCV001002235 benign Infantile-onset ascending hereditary spastic paralysis 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001571615 SCV001796122 likely benign not provided 2021-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001660693 SCV001880617 benign not specified 2020-11-25 criteria provided, single submitter clinical testing

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