ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)

gnomAD frequency: 0.00004  dbSNP: rs147213897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001886292 SCV002150418 likely benign not provided 2022-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482631 SCV002778036 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 2021-10-08 criteria provided, single submitter clinical testing

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