ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.257G>A (p.Trp86Ter) (rs1784831364)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293990 SCV001482731 uncertain significance Developmental malformations-deafness-dystonia syndrome 2020-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. Predicted loss-of-function (pLoF) variants in ACTB have been reported in patients with a pleiotropic developmental disorder that is distinct from BRWS1 [PMID:29220674]

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