ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.2070T>C (p.Asn690=)

dbSNP: rs560128689
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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) RCV000318744 SCV000334927 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090346 SCV005794543 benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2024-11-27 criteria provided, single submitter clinical testing

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