ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.919+13C>T

gnomAD frequency: 0.00005  dbSNP: rs371922603
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002952467 SCV003267856 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2024-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239549 SCV005886673 likely benign not specified 2025-02-04 criteria provided, single submitter clinical testing

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