ClinVar Miner

Submissions for variant NM_006979.3(SLC39A7):c.847A>C (p.Thr283Pro)

gnomAD frequency: 0.00030  dbSNP: rs200100279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002129649 SCV002407538 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933449 SCV004751532 likely benign SLC39A7-related disorder 2022-11-02 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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