ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11466G>A (p.Val3822=) (rs755842633)

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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 RCV000338794 SCV000426963 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392009 SCV000426964 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Iberoamerican FH Network RCV000392009 SCV000748076 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV000875893 SCV001018377 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Color RCV001182073 SCV001347397 likely benign Familial hypercholesterolemia 2018-07-16 criteria provided, single submitter clinical testing

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