ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1491T>C (p.Asn497=) (rs767806871)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533971 SCV000657939 likely benign Charcot-Marie-Tooth disease type 4 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000601308 SCV000732149 likely benign not specified 2017-02-09 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.

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