ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=)

gnomAD frequency: 0.00006  dbSNP: rs772924353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900670 SCV001045000 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2023-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001548647 SCV001768594 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918, 27535533)
Fulgent Genetics, Fulgent Genetics RCV000900670 SCV002796612 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2021-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950561 SCV004774192 likely benign SLC39A13-related disorder 2019-07-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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