ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)

dbSNP: rs140574574
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000488236 SCV000229261 uncertain significance not provided 2015-01-29 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415137 SCV000493054 uncertain significance Abnormality of the skeletal system; Myopia; Cutis laxa; Mitral valve prolapse; Abnormality of connective tissue; Scleroderma 2014-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000488236 SCV000525099 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000488236 SCV000574884 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SLC39A13: BS2
Invitae RCV001086027 SCV000646922 likely benign Ehlers-Danlos syndrome, spondylocheirodysplastic type 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277391 SCV002566081 benign Ehlers-Danlos syndrome 2022-07-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277392 SCV002567021 benign Connective tissue disorder 2022-07-17 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000488236 SCV001798308 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000488236 SCV001808401 likely benign not provided no assertion criteria provided clinical testing

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