ClinVar Miner

Submissions for variant NM_000362.5(TIMP3):c.567C>T (p.Gly189=)

gnomAD frequency: 0.00004  dbSNP: rs753287182
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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 RCV001523520 SCV001733234 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956213 SCV004775487 likely benign TIMP3-related disorder 2019-07-16 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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