ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.*9G>A (rs4922115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000372157 SCV000472763 likely benign Hyperlipoproteinemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589807 SCV000696003 benign not provided 2017-06-08 criteria provided, single submitter clinical testing Variant summary: The LPL c.*9G>A variant causes a missense change involving the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. The variant of interest has been found in a large, broad control population, ExAC in 17618/121272 control chromosomes at a frequency of 0.1452767, which is approximately 43 times the estimated maximal expected allele frequency of a pathogenic LPL variant (0.0033541), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as benign.

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