ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala)

gnomAD frequency: 0.01139  dbSNP: rs192771726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000961766 SCV001108820 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001289673 SCV001477639 benign Charcot-Marie-Tooth disease type 4B3 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000961766 SCV001804039 likely benign not provided 2020-05-11 criteria provided, single submitter clinical testing

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