ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5103+9T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002580113 SCV002930220 likely benign not provided 2025-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903719 SCV004728411 likely benign ITPR1-related disorder 2019-05-28 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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