ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu)

dbSNP: rs2105305609
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV002245287 SCV002515319 uncertain significance Donnai-Barrow syndrome 2022-02-01 criteria provided, single submitter clinical testing

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