ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.4368+17G>A

gnomAD frequency: 0.01026  dbSNP: rs116526390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581482 SCV001813144 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803375 SCV002048909 benign Charcot-Marie-Tooth disease type 4B3 2023-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001581482 SCV002462756 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001581482 SCV005207769 likely benign not provided criteria provided, single submitter not provided

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