ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG

dbSNP: rs71269007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860840 SCV001001005 benign Familial aplasia of the vermis 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001692295 SCV001912931 benign not provided 2017-05-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700472 SCV001924747 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700472 SCV001968699 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001692295 SCV001978301 likely benign not provided no assertion criteria provided clinical testing

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