ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.654C>T (p.Cys218=)

gnomAD frequency: 0.00007  dbSNP: rs375324850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001866526 SCV002117602 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489959 SCV002780116 uncertain significance Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 2021-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001866526 SCV004136905 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing LTBP2: BP4, BP7

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