ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.430-5dup

dbSNP: rs762831481
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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) RCV000713242 SCV000338905 uncertain significance not provided 2016-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713242 SCV000843828 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080336 SCV001013865 benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000713242 SCV001817652 likely benign not provided 2019-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30564623)

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