ClinVar Miner

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

gnomAD frequency: 0.03057  dbSNP: rs34394958
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Total submissions: 7
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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 Laboratory Services, Illumina RCV000280356 SCV000441615 likely benign Deficiency of ferroxidase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284071 SCV000484045 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000280356 SCV000636878 benign Deficiency of ferroxidase 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001657707 SCV001875452 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000116821 SCV001808813 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001657707 SCV001972978 likely benign not provided no assertion criteria provided clinical testing

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