ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2236-10del

dbSNP: rs72105710
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572996 SCV001937532 benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Invitae RCV002070367 SCV002391009 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260171 SCV002539219 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260173 SCV002539220 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260172 SCV002539221 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529564 SCV001743209 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572996 SCV001798240 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001529564 SCV001925276 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572996 SCV001929213 likely benign not provided no assertion criteria provided clinical testing

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