ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.302-7C>G

gnomAD frequency: 0.00002  dbSNP: rs746687344
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002098004 SCV002388359 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2022-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002098004 SCV002797426 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2021-08-13 criteria provided, single submitter clinical testing

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