ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.786+7G>A

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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 RCV002995617 SCV003296732 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2024-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963549 SCV004786054 likely benign SLC39A13-related disorder 2024-02-12 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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