ClinVar Miner

Submissions for variant NM_014243.3(ADAMTS3):c.661+7G>A

gnomAD frequency: 0.00624  dbSNP: rs72852050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961536 SCV001108585 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505447 SCV002801756 likely benign Hennekam lymphangiectasia-lymphedema syndrome 3 2021-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960713 SCV004767054 benign ADAMTS3-related disorder 2019-08-09 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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