ClinVar Miner

Submissions for variant NM_000242.2(MBL2):c.-66C>T

gnomAD frequency: 0.30009  dbSNP: rs7095891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000390620 SCV000483068 likely benign Mannose-binding lectin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705498 SCV005220751 likely benign not provided criteria provided, single submitter not provided

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