ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2543A>G (p.Ter848=)

gnomAD frequency: 0.00009  dbSNP: rs200664940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298048 SCV000453188 likely benign Amyotrophic lateral sclerosis type 21 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.
Invitae RCV000298048 SCV001672430 likely benign Amyotrophic lateral sclerosis type 21 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437119 SCV004164233 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing MATR3: BS1

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