ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.282A>G (p.Ile94Met) (rs786202847)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165877 SCV000216628 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-25 criteria provided, single submitter clinical testing The p.I94M variant (also known as c.282A>G), located in coding exon 3 of the RAD50 gene, results from an A to G substitution at nucleotide position 282. The isoleucine at codon 94 is replaced by methionine, an amino acid with highly similar properties. <span style="background-color:initial">This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000165877 SCV001020226 likely benign Hereditary cancer-predisposing syndrome 2020-10-30 criteria provided, single submitter clinical testing
Mendelics RCV000987597 SCV001136974 likely benign Nijmegen breakage syndrome-like disorder 2019-05-28 criteria provided, single submitter clinical testing

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