ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)

gnomAD frequency: 0.00003  dbSNP: rs143425834
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381573 SCV000427144 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290019 SCV000427145 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504129 SCV002813397 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002504129 SCV003493092 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884495 SCV004701755 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing APOB: BP4
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003884495 SCV005624801 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing

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