ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.4515G>A (p.Val1505=)

gnomAD frequency: 0.00025  dbSNP: rs144935862
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550535 SCV000657963 likely benign Charcot-Marie-Tooth disease type 4 2024-11-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139860 SCV003820674 uncertain significance Charcot-Marie-Tooth disease type 4B2 2021-03-26 criteria provided, single submitter clinical testing

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