ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.2502T>C (p.Thr834=)

gnomAD frequency: 0.67247  dbSNP: rs862031
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001776251 SCV002014053 benign Weill-Marchesani syndrome 3 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776250 SCV002014055 benign Microspherophakia 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070342 SCV002410178 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002070342 SCV005292265 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528450 SCV001740226 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528450 SCV001807980 benign not specified no assertion criteria provided clinical testing

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