ClinVar Miner

Submissions for variant NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys)

gnomAD frequency: 0.66379  dbSNP: rs788908
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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 RCV001549243 SCV001769362 benign Hennekam lymphangiectasia-lymphedema syndrome 3 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716774 SCV005297964 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980684 SCV004799150 benign ADAMTS3-related disorder 2019-05-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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