ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.604G>A (p.Glu202Lys)

gnomAD frequency: 0.00971  dbSNP: rs115750596
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243876 SCV000317297 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243876 SCV000338640 benign not specified 2016-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000243876 SCV000525087 benign not specified 2016-07-20 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.
Athena Diagnostics RCV000710076 SCV000612364 benign not provided 2019-06-30 criteria provided, single submitter clinical testing
Invitae RCV001084526 SCV000645919 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103562 SCV001260335 benign ANO5-Related Muscle Diseases 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710076 SCV002049058 benign not provided 2023-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259756 SCV002539186 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259758 SCV002539187 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259757 SCV002539188 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710076 SCV004129937 benign not provided 2024-04-01 criteria provided, single submitter clinical testing ANO5: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000243876 SCV002034244 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000243876 SCV002035142 benign not specified no assertion criteria provided clinical testing

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