ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.2661C>T (p.Ala887=)

gnomAD frequency: 0.49045  dbSNP: rs8043
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244863 SCV000311943 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244863 SCV000519726 benign not specified 2016-01-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516969 SCV001725349 benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516969 SCV002098613 benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712209 SCV005269439 benign not provided criteria provided, single submitter not provided

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