ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.429+5G>A

gnomAD frequency: 0.00001  dbSNP: rs794727477
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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) RCV000177019 SCV000228826 uncertain significance not provided 2015-12-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137705 SCV003827631 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-06-27 criteria provided, single submitter clinical testing

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