ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.*3152G>A

gnomAD frequency: 0.04921  dbSNP: rs79486036
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345643 SCV000370108 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396168 SCV000370109 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105784 SCV001262786 benign ANO5-Related Muscle Diseases 2018-01-12 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.
GeneDx RCV001612957 SCV001832637 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259825 SCV002539282 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259827 SCV002539283 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259826 SCV002539284 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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