ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.735C>T (p.Gly245=)

gnomAD frequency: 0.00005  dbSNP: rs186289501
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433757 SCV000523091 benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088638 SCV001014038 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-11-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253438 SCV002524453 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253437 SCV002524454 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551453 SCV004775724 likely benign ACTG1-related disorder 2021-05-04 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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