ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.276G>A (p.Val92=)

gnomAD frequency: 0.00005  dbSNP: rs551959021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000944208 SCV001090173 benign not provided 2024-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434302 SCV002751618 likely benign Cardiovascular phenotype 2022-03-09 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.
Natera, Inc. RCV001272628 SCV001454751 uncertain significance Hyperlipoproteinemia, type I 2019-12-18 no assertion criteria provided clinical testing

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