ClinVar Miner

Submissions for variant NM_005577.4(LPA):c.4289+1G>A

dbSNP: rs41272114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455185 SCV000539539 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
OMIM RCV001823905 SCV000035799 pathogenic Lipoprotein(a) deficiency, congenital 2020-08-07 no assertion criteria provided literature only

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