ClinVar Miner

Submissions for variant NM_000096.4(CP):c.*137C>T (rs34228141)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000286206 SCV000441612 likely benign Deficiency of ferroxidase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328470 SCV000484043 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing

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