ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.378G>A (p.Arg126=)

gnomAD frequency: 0.00004  dbSNP: rs753521481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002105346 SCV002399838 likely benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499979 SCV002796084 likely benign Donnai-Barrow syndrome 2021-11-10 criteria provided, single submitter clinical testing

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