ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.2004-13C>T

gnomAD frequency: 0.00162  dbSNP: rs201794720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392412 SCV000482384 likely benign Infantile-onset X-linked spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001643122 SCV001859308 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000392412 SCV002381268 benign Infantile-onset X-linked spinal muscular atrophy 2025-01-28 criteria provided, single submitter clinical testing

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