ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) (rs587782090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130597 SCV000185470 pathogenic Hereditary cancer-predisposing syndrome 2014-01-03 criteria provided, single submitter clinical testing ​The p.E302* pathogenic mutation (also known as c.904G>T), located in coding exon 7 of the RAD50 gene, results from a G to T substitution at nucleotide position 904. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Fulgent Genetics,Fulgent Genetics RCV000763128 SCV000893686 pathogenic Nijmegen breakage syndrome-like disorder 2018-10-31 criteria provided, single submitter clinical testing

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