Submissions for variant NM_213599.3(ANO5):c.*1286G>T

gnomAD frequency: 0.65457  dbSNP: rs7925081

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000346894	SCV000370048	likely benign	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402414	SCV000370049	likely benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103744	SCV001260549	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	RCV001642940	SCV001858788	benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259810	SCV002539262	benign	Gnathodiaphyseal dysplasia	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259812	SCV002539264	benign	Miyoshi muscular dystrophy 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259811	SCV002539265	benign	Autosomal recessive limb-girdle muscular dystrophy type 2L	2021-12-05	criteria provided, single submitter	clinical testing