ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.-136G>C

gnomAD frequency: 0.83191  dbSNP: rs12792259
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000406447 SCV000340081 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267576 SCV000369949 benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301651 SCV000369950 benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000128763 SCV000979399 benign not provided 2018-06-14 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.
Illumina Laboratory Services, Illumina RCV001106538 SCV001263611 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.
Genome-Nilou Lab RCV001553818 SCV001774885 benign Gnathodiaphyseal dysplasia 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553819 SCV001774886 benign Miyoshi muscular dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553820 SCV001774887 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-07-14 criteria provided, single submitter clinical testing
ANO5 @LOVD RCV000128763 SCV000172403 not provided not provided no assertion provided not provided

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