ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148508 SCV000190219 likely benign Acute intermittent porphyria 2014-06-01 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730694 SCV000858452 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000148508 SCV000367707 likely benign Acute intermittent porphyria 2016-06-14 criteria provided, single submitter clinical testing

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