ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1545A>G (p.Ser515=)

gnomAD frequency: 0.00699  dbSNP: rs35843353
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152787 SCV000202175 benign not specified 2013-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152787 SCV000317285 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000128771 SCV000525501 benign not provided 2019-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079347 SCV000645893 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000152787 SCV001475528 benign not specified 2020-07-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259694 SCV002539205 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259696 SCV002539206 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259695 SCV002539208 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000128771 SCV004564909 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
ANO5 @LOVD RCV000128771 SCV000172412 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152787 SCV001740172 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000152787 SCV001964518 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000128771 SCV002036764 likely benign not provided no assertion criteria provided clinical testing

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