ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.879-18T>C

gnomAD frequency: 0.06440  dbSNP: rs7104758
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082854 SCV000114906 benign not specified 2018-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082854 SCV000317298 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000082854 SCV000522847 benign not specified 2016-02-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055237 SCV002377559 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259577 SCV002539195 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259579 SCV002539197 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259578 SCV002539198 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477243 SCV002796631 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 2021-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000128789 SCV005317832 benign not provided criteria provided, single submitter not provided
ANO5 @LOVD RCV000128789 SCV000172432 not provided not provided no assertion provided not provided

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