ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)

gnomAD frequency: 0.20651  dbSNP: rs11228413
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254390 SCV000308713 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576847 SCV000373782 benign Autosomal recessive distal spinal muscular atrophy 1 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000254390 SCV000539344 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 23% of total chromosomes in ExAC
Athena Diagnostics Inc RCV000576847 SCV000677346 benign Autosomal recessive distal spinal muscular atrophy 1 2017-04-14 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173353 SCV001336441 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001514630 SCV001722524 benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001651164 SCV001866461 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001729488 SCV001977513 benign Charcot-Marie-Tooth disease axonal type 2S 2021-08-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000576847 SCV000733100 benign Autosomal recessive distal spinal muscular atrophy 1 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000254390 SCV001918648 benign not specified no assertion criteria provided clinical testing

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