ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5763A>G (p.Gly1921=) (rs141022509)

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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 RCV000322373 SCV000427063 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383727 SCV000427064 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000546635 SCV000659288 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771569 SCV000904150 likely benign Familial hypercholesterolemia 2018-03-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283878 SCV001469341 likely benign not provided 2020-05-07 criteria provided, single submitter clinical testing

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