ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.-5G>A

gnomAD frequency: 0.00003  dbSNP: rs774975492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305433 SCV000333693 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955440 SCV004776010 likely benign TRIM32-related disorder 2020-01-28 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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