ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=)

gnomAD frequency: 0.00170  dbSNP: rs143778004
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880595 SCV001023704 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880595 SCV004159605 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SLC39A4: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000880595 SCV005269791 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271165 SCV001452037 benign Hereditary acrodermatitis enteropathica 2020-09-16 no assertion criteria provided clinical testing

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