ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.1261_1275del (p.Val421_Cys425del)

dbSNP: rs1562846694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Clinic, Mersin Women and Children Hospital RCV000782175 SCV000863976 likely pathogenic ACTL6B-related neurodevelopmental disorder 2018-12-31 criteria provided, single submitter clinical testing The c.1261_1275del variant is found in two related consanguineous families with at least three affected individuals.

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