ClinVar Miner

Submissions for variant NM_021975.4(RELA):c.1008C>T (p.Arg336=)

dbSNP: rs763729954
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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 RCV000768069 SCV003012656 likely benign not provided 2024-04-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224423 SCV003920395 uncertain significance Mucocutaneous ulceration, chronic 2021-03-30 criteria provided, single submitter clinical testing RELA NM_021975.3 exon 10 p.Arg336Arg (c.1008C>T):This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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