ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)

dbSNP: rs147182340
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research, Children's National Medical Center RCV000234678 SCV000265804 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000726452 SCV000344744 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517430 SCV003261701 benign Bethlem myopathy 1A 2023-11-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726452 SCV003834173 uncertain significance not provided 2020-04-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016569 SCV005651568 uncertain significance Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 2024-06-11 criteria provided, single submitter clinical testing

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