ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.428-8del

dbSNP: rs370823033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000372226 SCV000419198 uncertain significance Donnai-Barrow syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000961997 SCV001109058 benign not provided 2024-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000961997 SCV001871959 benign not provided 2019-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000372226 SCV002055789 benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing

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