ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.696C>T (p.His232=)

gnomAD frequency: 0.00046  dbSNP: rs371961000
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952087 SCV001098558 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001576132 SCV001803256 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing

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