ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.193-113T>C

gnomAD frequency: 0.05521  dbSNP: rs115637224
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523523 SCV001733237 benign not provided 2024-04-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523523 SCV005269805 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001832725 SCV002083136 benign Hereditary acrodermatitis enteropathica 2019-10-17 no assertion criteria provided clinical testing

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