ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) (rs2646258)

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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 RCV000576476 SCV000677204 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-06-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080994 SCV000112901 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080994 SCV000150853 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 RCV000274813 SCV000428745 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080994 SCV000310222 benign not specified criteria provided, single submitter clinical testing

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