ClinVar Miner

Submissions for variant NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr)

gnomAD frequency: 0.00023  dbSNP: rs149216902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332301 SCV001524567 uncertain significance Mannose-binding lectin deficiency 2019-12-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004692556 SCV005190745 uncertain significance not provided criteria provided, single submitter not provided

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