ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.1107C>T (p.Ile369=)

gnomAD frequency: 0.00065  dbSNP: rs71531321
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704765 SCV000728685 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642198 SCV000763852 likely benign Baraitser-Winter syndrome 1 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000642198 SCV002524370 benign Baraitser-Winter syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253523 SCV002524371 benign Developmental malformations-deafness-dystonia syndrome 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491290 SCV002802334 likely benign Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 2021-09-15 criteria provided, single submitter clinical testing

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