ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1482C>T (p.Cys494=)

gnomAD frequency: 0.00010  dbSNP: rs782484295
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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 RCV000910797 SCV001055688 benign Infantile-onset X-linked spinal muscular atrophy 2025-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438581 SCV004164988 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing UBA1: BP4, BP7

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