ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6545G>A (p.Arg2182His)

gnomAD frequency: 0.00001  dbSNP: rs199813044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263943 SCV000419110 uncertain significance Donnai-Barrow syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001399736 SCV001601534 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000263943 SCV002055247 uncertain significance Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing

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