ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.2793G>A (p.Leu931=)

dbSNP: rs782340410
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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 RCV000640818 SCV000762419 likely benign Infantile-onset X-linked spinal muscular atrophy 2017-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440282 SCV002751485 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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