ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.2985C>T (p.Pro995=)

gnomAD frequency: 0.00025  dbSNP: rs144172824
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235831 SCV001092324 benign Distal hereditary motor neuropathy type 2 2024-10-09 criteria provided, single submitter clinical testing

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