ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)

gnomAD frequency: 0.00021  dbSNP: rs199783239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791208 SCV000930489 uncertain significance Charcot-Marie-Tooth disease type 4B3 2019-04-27 criteria provided, single submitter clinical testing
GeneDx RCV001576154 SCV001803284 uncertain significance not provided 2021-11-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001576154 SCV002373977 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing

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