ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.-217G>T

dbSNP: rs73479393
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345495 SCV000369939 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388397 SCV000369940 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000837024 SCV000978872 benign not provided 2018-06-18 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 RCV001106533 SCV001263606 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 RCV002259804 SCV002539179 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259806 SCV002539180 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259805 SCV002539181 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000837024 SCV005223681 likely benign not provided criteria provided, single submitter not provided

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