ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.2274-10del

dbSNP: rs539653012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000355123 SCV000337690 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555218 SCV000639520 benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2024-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001697705 SCV000714888 benign not provided 2019-10-16 criteria provided, single submitter clinical testing

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