ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.573C>T (p.Asp191=)

gnomAD frequency: 0.00006  dbSNP: rs375358854
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001400977 SCV001602788 likely benign Hypercholesterolemia, familial, 4 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831423 SCV002085937 likely benign Familial hypercholesterolemia 2021-08-10 no assertion criteria provided clinical testing

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