ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.4689C>T (p.Tyr1563=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003545805 SCV004269952 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966482 SCV004778587 likely benign ABCA12-related disorder 2022-11-04 criteria provided, single submitter 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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