ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.296A>C (p.Glu99Ala)

gnomAD frequency: 0.00573  dbSNP: rs148021361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973634 SCV001121402 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001289629 SCV001477592 benign Charcot-Marie-Tooth disease type 4B3 2019-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000973634 SCV001870118 benign not provided 2019-11-11 criteria provided, single submitter clinical testing

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