ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1156C>T (p.Leu386=)

gnomAD frequency: 0.00008  dbSNP: rs782722368
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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 RCV002075180 SCV002375922 likely benign Infantile-onset X-linked spinal muscular atrophy 2024-06-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950988 SCV004766408 likely benign UBA1-related disorder 2019-02-18 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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