ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)

dbSNP: rs34969327
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000116354 SCV000227978 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116354 SCV000317293 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116354 SCV000521260 benign not specified 2016-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001082938 SCV000645915 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-21 criteria provided, single submitter clinical testing
Mendelics RCV000988508 SCV001138255 benign Gnathodiaphyseal dysplasia 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000128782 SCV001143033 benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103653 SCV001260445 likely benign ANO5-Related Muscle Diseases 2017-04-28 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.
Genome-Nilou Lab RCV000988508 SCV002539253 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259603 SCV002539254 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259602 SCV002539255 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116354 SCV000150276 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
ANO5 @LOVD RCV000128782 SCV000172424 not provided not provided no assertion provided not provided

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