ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.223-3del

dbSNP: rs750862626
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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 RCV000518338 SCV000615813 benign not specified 2016-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520370 SCV001729444 benign Welander distal myopathy 2025-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979931 SCV004790773 likely benign TIA1-related disorder 2019-10-30 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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