ClinVar Miner

Submissions for variant NM_018368.3(LMBRD1):c.-250G>C

gnomAD frequency: 0.02394  dbSNP: rs112053239
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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 RCV000313040 SCV000464529 likely benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672680 SCV001891796 benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672680 SCV005222164 likely benign not provided criteria provided, single submitter not provided

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