ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.168C>T (p.Asp56=) (rs13447398)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000282092 SCV000345489 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000282092 SCV000728681 benign not specified 2017-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000642201 SCV000763855 benign Baraitser-Winter syndrome 1 2017-10-19 criteria provided, single submitter clinical testing

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