ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.1902C>T (p.Pro634=)

gnomAD frequency: 0.00001  dbSNP: rs202014246
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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 RCV000352385 SCV000416515 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392713 SCV000416516 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002057574 SCV002412056 likely benign not provided 2023-11-04 criteria provided, single submitter clinical testing

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