ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.36C>T (p.Asn12=)

gnomAD frequency: 0.00004  dbSNP: rs764325153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427582 SCV000533650 likely benign not provided 2019-05-20 criteria provided, single submitter clinical testing
Invitae RCV001089014 SCV001004665 likely benign Baraitser-Winter syndrome 1 2023-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481334 SCV002795120 likely benign Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 2021-10-18 criteria provided, single submitter clinical testing

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