ClinVar Miner

Submissions for variant NM_178172.6(GPIHBP1):c.285C>T (p.His95=)

gnomAD frequency: 0.00227  dbSNP: rs138215873
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971287 SCV001118924 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000971287 SCV001983350 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434329 SCV002752782 likely benign Cardiovascular phenotype 2019-04-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000971287 SCV004010806 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing GPIHBP1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000971287 SCV005222255 likely benign not provided criteria provided, single submitter not provided

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