ClinVar Miner

Submissions for variant NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)

gnomAD frequency: 0.00088  dbSNP: rs150650712
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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) RCV000081331 SCV000113251 uncertain significance not provided 2013-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000081331 SCV001723492 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964934 SCV004777605 likely benign TOPORS-related disorder 2019-08-15 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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