ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.731-5T>C

gnomAD frequency: 0.00006  dbSNP: rs528175277
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 RCV002236037 SCV001019904 likely benign Distal hereditary motor neuropathy type 2 2024-12-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705858 SCV005221232 likely benign not provided criteria provided, single submitter not provided

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