ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.124-9C>T

gnomAD frequency: 0.00006  dbSNP: rs376850595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548604 SCV001768544 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001548604 SCV002010644 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV002568302 SCV003004889 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551900 SCV004777359 likely benign ACTG1-related disorder 2020-01-28 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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