ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.561C>T (p.Ala187=) (rs587781152)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127913 SCV000171499 benign not specified 2014-03-21 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 RCV000730227 SCV000768537 benign not provided 2018-10-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730227 SCV000857948 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing

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