ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1770C>T (p.Leu590=)

gnomAD frequency: 0.00685  dbSNP: rs143552175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117268 SCV000151442 likely benign not specified 2013-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000117268 SCV000516920 benign not specified 2016-06-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000530137 SCV000634581 benign Familial aplasia of the vermis 2024-01-29 criteria provided, single submitter clinical testing

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