ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.729C>G (p.Val243=)

dbSNP: rs3816088
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296560 SCV000416531 likely benign Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333068 SCV000416532 likely benign Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522567 SCV001732141 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001522567 SCV001891782 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522567 SCV005262860 likely benign not provided criteria provided, single submitter not provided

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