ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.723C>T (p.Tyr241=)

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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 RCV002633836 SCV003519309 benign not provided 2023-09-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926748 SCV004744794 likely benign ACTN1-related disorder 2019-05-21 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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