ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.858C>T (p.Asp286=)

gnomAD frequency: 0.00003  dbSNP: rs150105166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869599 SCV001011039 likely benign Baraitser-Winter syndrome 1 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001546064 SCV001765515 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501296 SCV002813625 likely benign Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 2022-01-04 criteria provided, single submitter clinical testing

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