ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)

gnomAD frequency: 0.00001  dbSNP: rs566110160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001426083 SCV001628728 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2025-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001426083 SCV003827725 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1F 2019-07-03 criteria provided, single submitter clinical testing

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