ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)

gnomAD frequency: 0.00469  dbSNP: rs60615103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000327542 SCV000472570 likely benign Hereditary acrodermatitis enteropathica 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000953603 SCV001100181 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000327542 SCV002803766 likely benign Hereditary acrodermatitis enteropathica 2021-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000327542 SCV001452039 benign Hereditary acrodermatitis enteropathica 2020-09-16 no assertion criteria provided clinical testing

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