ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.981-10dup

dbSNP: rs202207965
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490505 SCV000267386 uncertain significance Donnai-Barrow syndrome 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services, Illumina RCV000391744 SCV000464511 likely benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542590 SCV000640285 benign Methylmalonic aciduria and homocystinuria type cblF 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001705185 SCV000729697 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000542590 SCV004564663 benign Methylmalonic aciduria and homocystinuria type cblF 2023-08-21 criteria provided, single submitter clinical testing

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