ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.7515C>T (p.Arg2505=)

gnomAD frequency: 0.00001  dbSNP: rs773316402
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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 RCV002205799 SCV002363278 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498254 SCV002813120 likely benign Donnai-Barrow syndrome 2022-04-13 criteria provided, single submitter clinical testing

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