ClinVar Miner

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

dbSNP: rs375548129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002188007 SCV002351179 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2025-01-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277002 SCV002567023 uncertain significance Connective tissue disorder 2021-12-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707747 SCV005224347 likely benign not provided criteria provided, single submitter not provided

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