ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.962G>A (p.Arg321His) (rs150428209)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000148508 SCV000367707 likely benign Acute intermittent porphyria 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730694 SCV000858452 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV000730694 SCV001051958 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Mount Sinai Diagnostic Laboratory,Icahn School of Medicine at Mount Sinai RCV000148508 SCV001132051 benign Acute intermittent porphyria criteria provided, single submitter research
CSER _CC_NCGL, University of Washington RCV000148508 SCV000190219 likely benign Acute intermittent porphyria 2014-06-01 no assertion criteria provided research

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