ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.756A>G (p.Gln252=)

gnomAD frequency: 0.00123  dbSNP: rs141918438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261423 SCV000383978 likely benign MHC class II deficiency 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000261423 SCV001107637 benign MHC class II deficiency 2025-02-02 criteria provided, single submitter clinical testing

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