ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2991T>C (p.His997=) (rs34394958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116821 SCV000150895 benign not specified 2013-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280356 SCV000441615 likely benign Deficiency of ferroxidase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284071 SCV000484045 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000280356 SCV000636878 benign Deficiency of ferroxidase 2017-07-23 criteria provided, single submitter clinical testing

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