ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=)

gnomAD frequency: 0.00001  dbSNP: rs192863290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712020 SCV000842433 benign not provided 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712020 SCV001030018 likely benign not provided 2024-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938052 SCV004754377 likely benign ITPR1-related disorder 2024-07-24 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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