ClinVar Miner

Submissions for variant NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) (rs606231198)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153765 SCV000203339 benign not specified 2014-01-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000153765 SCV000614763 benign not specified 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000870932 SCV001012507 benign not provided 2017-12-19 criteria provided, single submitter clinical testing
Mendelics RCV000011731 SCV001141858 likely benign Renpenning syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011731 SCV000031963 pathogenic Renpenning syndrome 1 2006-04-01 no assertion criteria provided literature only

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