ClinVar Miner

Submissions for variant NM_001388453.1(QRICH2):c.4878G>A (p.Thr1626=)

gnomAD frequency: 0.09757  dbSNP: rs347675
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794866 SCV002033377 benign Spermatogenic failure 35 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710373 SCV005252400 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003976185 SCV004792710 benign QRICH2-related disorder 2019-11-12 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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