ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.963C>T (p.Ala321=)

gnomAD frequency: 0.00002  dbSNP: rs547979470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001096236 SCV001252433 uncertain significance Amyotrophic lateral sclerosis type 10 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002557978 SCV003264910 likely benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2023-11-05 criteria provided, single submitter clinical testing

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