ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.1654-3A>G

gnomAD frequency: 0.00958  dbSNP: rs114147896
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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 RCV000969636 SCV001117163 benign not provided 2024-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928466 SCV004746256 likely benign MIPEP-related disorder 2023-12-06 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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