ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.4693A>G (p.Ile1565Val) (rs115345208)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428605 SCV000521485 likely benign not specified 2017-02-27 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 RCV000549069 SCV000657966 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing

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