ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)

gnomAD frequency: 0.00061  dbSNP: rs61756249
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725088 SCV000333930 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083635 SCV000639527 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000725088 SCV000729041 benign not provided 2019-07-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725088 SCV005041558 benign not provided 2024-04-01 criteria provided, single submitter clinical testing TNPO3: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003967715 SCV004779850 likely benign TNPO3-related disorder 2020-09-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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