ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr)

gnomAD frequency: 0.00004  dbSNP: rs749499150
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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 RCV001462195 SCV001666108 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2024-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531103 SCV001746072 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001531103 SCV001779837 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing

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