ClinVar Miner

Submissions for variant NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter)

dbSNP: rs1284611659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253052 SCV001428571 likely pathogenic Hyperlipoproteinemia, type 1D 2018-01-10 criteria provided, single submitter clinical testing This variant was identified as homozygous
MGZ Medical Genetics Center RCV001253052 SCV002581546 likely pathogenic Hyperlipoproteinemia, type 1D 2022-03-17 criteria provided, single submitter clinical testing

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