ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.564C>T (p.Tyr188=)

gnomAD frequency: 0.00009  dbSNP: rs141964376
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620304 SCV001844072 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072922 SCV002406409 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253902 SCV002524464 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253901 SCV002524465 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001620304 SCV004144613 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ACTG1: BP4
PreventionGenetics, part of Exact Sciences RCV004728781 SCV005335930 likely benign ACTG1-related disorder 2024-07-25 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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