ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.687G>A (p.Thr229=)

gnomAD frequency: 0.00083  dbSNP: rs138499594
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862149 SCV001002610 benign Baraitser-Winter syndrome 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001644845 SCV001858040 benign not provided 2020-01-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000862149 SCV002524392 benign Baraitser-Winter syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253618 SCV002524393 benign Developmental malformations-deafness-dystonia syndrome 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501210 SCV002806623 likely benign Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 2021-09-17 criteria provided, single submitter clinical testing

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