ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2244+3G>A (rs12714189)

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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 RCV000360376 SCV000427138 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268138 SCV000427139 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473103 SCV000554842 benign not provided 2019-01-22 criteria provided, single submitter clinical testing
Color RCV000771110 SCV000902803 benign Familial hypercholesterolemia 2017-07-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000473103 SCV001133398 benign not provided 2019-01-03 criteria provided, single submitter clinical testing

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