ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=)

gnomAD frequency: 0.00013  dbSNP: rs140844921
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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 RCV000552745 SCV000646928 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001653906 SCV001871188 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing

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