ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.123+8G>A

gnomAD frequency: 0.00001  dbSNP: rs536476533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429312 SCV000510885 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000610081 SCV000723824 likely benign not specified 2017-10-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002521508 SCV003025461 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2022-02-05 criteria provided, single submitter clinical testing

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