ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.4065T>C (p.Tyr1355=)

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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 RCV003553535 SCV004274562 benign not provided 2023-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929236 SCV004740056 likely benign ABCA12-related disorder 2019-10-10 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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