ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.1987+21G>A

gnomAD frequency: 0.31731  dbSNP: rs862025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717785 SCV001945825 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776303 SCV002014058 benign Weill-Marchesani syndrome 3 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776302 SCV002014059 benign Microspherophakia 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001717785 SCV005292273 benign not provided criteria provided, single submitter not provided

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