ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.196-6dup

dbSNP: rs568365779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000270887 SCV000331803 benign not specified 2016-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059071 SCV002402399 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2025-02-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573542 SCV001799566 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000270887 SCV001953005 benign not specified no assertion criteria provided clinical testing

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