ClinVar Miner

Submissions for variant NM_001388453.1(QRICH2):c.4705C>T (p.Arg1569Cys)

gnomAD frequency: 0.00210  dbSNP: rs146485823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727056 SCV001961728 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931296 SCV004746018 benign QRICH2-related disorder 2023-12-19 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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