ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.12461+20C>T

gnomAD frequency: 0.00015  dbSNP: rs368683982
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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 RCV002141188 SCV002461046 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494470 SCV002800987 likely benign Donnai-Barrow syndrome 2021-12-10 criteria provided, single submitter clinical testing

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