ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.*50G>C

gnomAD frequency: 0.78588  dbSNP: rs1042712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315325 SCV000416437 benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367706 SCV000416438 benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672560 SCV001890159 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672560 SCV005245298 benign not provided criteria provided, single submitter not provided

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