ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.88+3A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003314395 SCV004013705 uncertain significance Hyperlipoproteinemia, type I criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Intron variant. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.96). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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