ClinVar Miner

Submissions for variant NM_199355.4(ADAMTS18):c.972+7G>A

gnomAD frequency: 0.00009  dbSNP: rs917230582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498422 SCV001703172 likely benign not provided 2024-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931020 SCV004745512 likely benign ADAMTS18-related disorder 2019-09-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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