ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3904+5C>G

gnomAD frequency: 0.00233  dbSNP: rs115032856
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508180 SCV000605057 benign Charcot-Marie-Tooth disease type 4B3 2021-11-30 criteria provided, single submitter clinical testing
Invitae RCV000971983 SCV001119667 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000971983 SCV001803134 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971983 SCV004153403 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SBF1: BP4, BS2
Clinical Genetics, Academic Medical Center RCV001701025 SCV001924385 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000971983 SCV001963486 likely benign not provided no assertion criteria provided clinical testing

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