ClinVar Miner

Submissions for variant NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys)

gnomAD frequency: 0.00395  dbSNP: rs6790173
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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) RCV000308774 SCV000336670 benign not specified 2015-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000880094 SCV001023165 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316461 SCV004015349 benign RIDDLE syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880094 SCV005305770 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003947873 SCV004770323 benign RNF168-related disorder 2024-01-04 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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