ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4888+18G>A

gnomAD frequency: 0.01044  dbSNP: rs73296217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127490 SCV002402466 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494301 SCV002797808 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 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002127490 SCV005292240 benign not provided criteria provided, single submitter not provided

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