ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.2622C>A (p.Ser874=)

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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 RCV003830823 SCV004633459 likely benign not provided 2024-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956599 SCV004767996 likely benign LTBP4-related disorder 2019-07-11 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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