ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1095A>G (p.Leu365=)

gnomAD frequency: 0.00183  dbSNP: rs35804601
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174191 SCV000225452 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000128767 SCV000529639 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Invitae RCV001507247 SCV000645888 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106640 SCV001263721 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab RCV002259691 SCV002539199 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259693 SCV002539200 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259692 SCV002539201 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
ANO5 @LOVD RCV000128767 SCV000172407 not provided not provided no assertion provided not provided

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