ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)

gnomAD frequency: 0.00232  dbSNP: rs143106228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000906608 SCV001051255 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502704 SCV002807716 benign 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 2021-11-02 criteria provided, single submitter clinical testing

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