ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.617-8C>T

gnomAD frequency: 0.00001  dbSNP: rs746302717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842213 SCV000984213 likely benign not provided 2018-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003505134 SCV004304244 likely benign Hypercholesterolemia, familial, 4 2023-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830859 SCV002085939 likely benign Familial hypercholesterolemia 2020-02-06 no assertion criteria provided clinical testing

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