ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=)

gnomAD frequency: 0.00004  dbSNP: rs752707598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697997 SCV000724182 likely benign not provided 2020-03-16 criteria provided, single submitter clinical testing
Invitae RCV000899407 SCV001043671 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2023-12-28 criteria provided, single submitter clinical testing

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