ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.30G>A (p.Lys10=)

dbSNP: rs557005278
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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 RCV003624432 SCV001003455 benign Syndromic X-linked intellectual disability 14 2024-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319961 SCV002607778 benign Inborn genetic diseases 2018-09-29 criteria provided, single submitter clinical testing This alteration is classified as 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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