ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.826T>C (p.Cys276Arg)

dbSNP: rs2471470322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002751758 SCV003574323 uncertain significance Inborn genetic diseases 2021-08-11 criteria provided, single submitter clinical testing The c.826T>C (p.C276R) alteration is located in exon 3 (coding exon 2) of the BRPF1 gene. This alteration results from a T to C substitution at nucleotide position 826, causing the cysteine (C) at amino acid position 276 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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