ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.363+16C>T

gnomAD frequency: 0.01128  dbSNP: rs73332405
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000515072 SCV000517133 benign not provided 2016-01-19 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515072 SCV000610582 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513372 SCV001720982 benign Baraitser-Winter syndrome 1 2025-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001513372 SCV002524406 benign Baraitser-Winter syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253428 SCV002524407 benign Developmental malformations-deafness-dystonia syndrome 2021-12-05 criteria provided, single submitter clinical testing

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