ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.3759G>A (p.Thr1253=)

gnomAD frequency: 0.00002  dbSNP: rs764860323
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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 RCV000274448 SCV000416485 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331835 SCV000416486 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057573 SCV002468147 likely benign not provided 2024-09-09 criteria provided, single submitter clinical testing

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