ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.582C>T (p.Thr194=)

gnomAD frequency: 0.51423  dbSNP: rs2236783
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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 RCV000407317 SCV000416539 benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304642 SCV000416540 benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001511199 SCV001718402 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001511199 SCV001882171 benign not provided 2021-06-09 criteria provided, single submitter clinical testing

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