ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.225C>T (p.Gly75=)

gnomAD frequency: 0.00003  dbSNP: rs376105192
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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 RCV000934214 SCV001079932 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960504 SCV004771008 likely benign SLC39A4-related disorder 2023-08-06 criteria provided, single submitter 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).
Natera, Inc. RCV001271167 SCV001452043 benign Hereditary acrodermatitis enteropathica 2020-09-16 no assertion criteria provided clinical testing

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