ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.1864+22C>A

gnomAD frequency: 0.25792  dbSNP: rs3742794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001654756 SCV005292274 benign not provided criteria provided, single submitter not provided
Genome-Nilou Lab RCV001776266 SCV002014061 benign Microspherophakia 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776267 SCV002014060 benign Weill-Marchesani syndrome 3 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001654756 SCV001869141 benign not provided 2018-08-14 criteria provided, single submitter clinical testing

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