ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.295-8dup

dbSNP: rs778435515
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000824718 SCV000231843 uncertain significance not provided 2015-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000824718 SCV000571401 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054135 SCV002408274 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000824718 SCV002585320 benign not provided 2023-03-01 criteria provided, single submitter clinical testing ANO5: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000824718 SCV004564165 benign not provided 2023-10-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000179577 SCV001922016 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000179577 SCV001963187 benign not specified no assertion criteria provided clinical testing

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