ClinVar Miner

Submissions for variant NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp)

gnomAD frequency: 0.00001  dbSNP: rs1291490743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266397 SCV001444571 likely pathogenic Inborn genetic diseases 2018-06-12 criteria provided, single submitter clinical testing
OMIM RCV001814300 SCV002061328 pathogenic Hypermanganesemia with dystonia 2 2022-01-18 no assertion criteria provided literature only

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