ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.2560-58T>C

gnomAD frequency: 0.55103  dbSNP: rs11204664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548854 SCV001768837 benign Ectopia lentis et pupillae 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001725226 SCV001960746 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725226 SCV005284001 benign not provided criteria provided, single submitter not provided

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