ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.2559+45C>T

gnomAD frequency: 0.92212  dbSNP: rs10749658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615582 SCV000730940 benign not specified 2017-05-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001548853 SCV001768836 benign Ectopia lentis et pupillae 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714099 SCV005283998 benign not provided criteria provided, single submitter not provided

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