ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)

gnomAD frequency: 0.00005  dbSNP: rs371482940
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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 RCV001043181 SCV001206900 benign Ectodermal dysplasia and immunodeficiency 2 2023-12-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001043181 SCV001268699 uncertain significance Ectodermal dysplasia and immunodeficiency 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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