ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.606G>T (p.Val202=) (rs1131488)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000262555 SCV000733005 benign Acute intermittent porphyria no assertion criteria provided clinical testing
GeneDx RCV000243574 SCV000516852 benign not specified 2015-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000262555 SCV000367702 benign Acute intermittent porphyria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402560 SCV000483217 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243574 SCV000302903 benign not specified criteria provided, single submitter clinical testing

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