ClinVar Miner

Submissions for variant NM_014495.4(ANGPTL3):c.496-17_496-14del

dbSNP: rs558543283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586164 SCV001811306 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001586164 SCV002410496 benign not provided 2024-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446837 SCV004172374 likely benign Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing

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