ClinVar Miner

Submissions for variant NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)

dbSNP: rs1055578473
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988371 SCV001138059 uncertain significance Hyperphenylalaninemia due to DNAJC12 deficiency 2019-05-28 criteria provided, single submitter clinical testing

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