ClinVar Miner

Submissions for variant NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn)

gnomAD frequency: 0.00106  dbSNP: rs139859703
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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) RCV000154010 SCV000203638 uncertain significance not provided 2014-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000154010 SCV001069263 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752763 SCV005366997 benign TOPORS-related disorder 2024-09-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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