ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.2943+17G>A

gnomAD frequency: 0.02405  dbSNP: rs116614291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001645045 SCV001859306 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001645045 SCV002407987 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339694 SCV004049670 benign Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339693 SCV004049672 benign Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001645045 SCV005284004 benign not provided criteria provided, single submitter not provided

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