ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.213G>A (p.Val71=)

gnomAD frequency: 0.00006  dbSNP: rs369515724
Minimum review status: Collection method:
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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 RCV000948980 SCV001095207 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000948980 SCV002541330 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing

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