ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.651G>A (p.Gln217=)

gnomAD frequency: 0.00002  dbSNP: rs1292863100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285870 SCV001472372 likely benign Charcot-Marie-Tooth disease type 4B3 2019-11-11 criteria provided, single submitter clinical testing
Invitae RCV002069519 SCV002431606 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953628 SCV004768673 likely benign SBF1-related condition 2022-12-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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