ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.11985C>T (p.Phe3995=)

dbSNP: rs138867955
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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 RCV002116924 SCV002399396 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507972 SCV002811221 likely benign Donnai-Barrow syndrome 2021-07-24 criteria provided, single submitter clinical testing

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