ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.4813-18C>T

gnomAD frequency: 0.00348  dbSNP: rs41281541
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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 RCV001000573 SCV001157537 benign Charcot-Marie-Tooth disease type 4B3 2023-09-11 criteria provided, single submitter clinical testing
GeneDx RCV001593173 SCV001826857 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Invitae RCV001593173 SCV002374746 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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