ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1593C>T (p.Ser531=)

dbSNP: rs148996947
Minimum review status: Collection method:
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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 RCV002181639 SCV002487961 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496108 SCV002800412 likely benign Donnai-Barrow syndrome 2021-11-20 criteria provided, single submitter clinical testing

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