ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2380+12del

gnomAD frequency: 0.04623  dbSNP: rs28364538
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152926 SCV000202355 benign not specified 2014-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152926 SCV000301880 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384537 SCV000391036 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283123 SCV000391037 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000283123 SCV000677225 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001573722 SCV000729896 benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000283123 SCV000743940 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2014-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000283123 SCV002481948 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-02-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573722 SCV001800008 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000152926 SCV001921788 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000152926 SCV001927055 benign not specified no assertion criteria provided clinical testing

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