ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.430-4G>T

gnomAD frequency: 0.00004  dbSNP: rs989155710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595498 SCV000706524 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065167 SCV002369760 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-05-27 criteria provided, single submitter clinical testing

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