ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) (rs61743313)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000238740 SCV000296912 uncertain significance Familial hypercholesterolemia 1 2015-10-30 criteria provided, single submitter clinical testing
Invitae RCV000655111 SCV000777036 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-06-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771223 SCV000903317 likely benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001545271 SCV001764570 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19602640)

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