ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val)

gnomAD frequency: 0.00285  dbSNP: rs115345208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720115 SCV000521485 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000549069 SCV000657966 benign Charcot-Marie-Tooth disease type 4 2025-02-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821171 SCV002068837 benign not specified 2018-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339009 SCV002639984 likely benign Inborn genetic diseases 2021-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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