ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1299G>A (p.Ala433=)

gnomAD frequency: 0.00272  dbSNP: rs56931633
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529331 SCV000634578 benign Familial aplasia of the vermis 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001668567 SCV001890214 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000248364 SCV002072281 likely benign not specified 2021-06-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001668567 SCV004161978 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing INPP5E: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001668567 SCV005228637 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004529443 SCV000313429 benign INPP5E-related disorder 2022-03-16 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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