ClinVar Miner

Submissions for variant NM_001101426.3(CRPPA):c.1220T>C (p.Leu407Ser) (rs141625803)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000117286 SCV000613776 likely benign not specified 2017-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117286 SCV000335936 benign not specified 2015-10-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117286 SCV000151461 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000403197 SCV000468006 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559377 SCV000652577 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2018-01-04 criteria provided, single submitter clinical testing

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