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 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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 2020-01-17 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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