ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3827-4T>C

gnomAD frequency: 0.00786  dbSNP: rs114603288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966107 SCV001113395 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287511 SCV001474206 benign Charcot-Marie-Tooth disease type 4B3 2022-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000966107 SCV001794082 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing

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