ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1837C>T (p.Leu613=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003887207 SCV004703010 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing INPP5E: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004756557 SCV005356440 likely benign INPP5E-related disorder 2022-11-14 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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