ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)

dbSNP: rs606231198
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153765 SCV000203339 benign not specified 2014-01-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000153765 SCV000614763 benign not specified 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870932 SCV001012507 benign not provided 2023-10-25 criteria provided, single submitter clinical testing
Mendelics RCV000011731 SCV001141858 likely benign Renpenning syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000870932 SCV004166253 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PQBP1: BS2
OMIM RCV000011731 SCV000031963 pathogenic Renpenning syndrome 2006-04-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003934825 SCV004760731 likely benign PQBP1-related disorder 2020-01-08 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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