ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.675G>A (p.Thr225=)

gnomAD frequency: 0.00001  dbSNP: rs926407411
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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 RCV000820929 SCV000961667 likely benign Hypercholesterolemia, familial, 4 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830805 SCV002085943 uncertain significance Familial hypercholesterolemia 2020-11-30 no assertion criteria provided clinical testing

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