ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4843-7G>A

gnomAD frequency: 0.00016  dbSNP: rs184969640
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004998788 SCV001475913 likely benign not specified 2024-05-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001288642 SCV002496771 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001288642 SCV003450845 likely benign not provided 2024-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963186 SCV004785461 likely benign ITPR1-related disorder 2019-08-21 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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