ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.1527C>T (p.His509=)

gnomAD frequency: 0.00004  dbSNP: rs182585967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241195 SCV001720372 benign Distal hereditary motor neuropathy type 2 2024-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900763 SCV004716487 likely benign FBXO38-related disorder 2023-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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