ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2127+4C>T

gnomAD frequency: 0.01090  dbSNP: rs151027707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224034 SCV000281011 likely benign not provided 2015-05-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000224034 SCV001110008 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000263 SCV001156869 benign Charcot-Marie-Tooth disease type 4B3 2023-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000224034 SCV001834620 benign not provided 2020-02-05 criteria provided, single submitter clinical testing

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