ClinVar Miner

Submissions for variant NM_002150.2(HPD):c.1005C>G (p.Ile335Met) (rs137852868)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000348223 SCV000376743 likely benign Hypertyrosinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386406 SCV000376744 likely benign 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000001642 SCV000021798 pathogenic 4-Hydroxyphenylpyruvate dioxygenase deficiency 2000-06-01 no assertion criteria provided literature only

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