ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1162C>T (p.Leu388=)

gnomAD frequency: 0.00135  dbSNP: rs114172780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193094 SCV000249377 likely benign not specified 2017-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000947151 SCV000526020 likely benign not provided 2020-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000947151 SCV001093322 benign not provided 2024-07-17 criteria provided, single submitter clinical testing

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