ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)

gnomAD frequency: 0.00011  dbSNP: rs150556863
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000729623 SCV000718337 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729623 SCV000857298 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063141 SCV002409212 benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2023-11-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279402 SCV002567025 uncertain significance Connective tissue disorder 2019-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953030 SCV004773365 likely benign SLC39A13-related disorder 2019-03-22 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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