ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.595T>C (p.Leu199=)

gnomAD frequency: 0.00155  dbSNP: rs141199511
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886073 SCV001029557 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000886073 SCV005222912 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000886073 SCV001931426 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000886073 SCV001975281 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001830938 SCV002083123 benign Hereditary acrodermatitis enteropathica 2019-10-21 no assertion criteria provided clinical testing

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