ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) (rs28903094)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212928 SCV000211611 benign not specified 2013-10-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000160911 SCV000212695 likely benign Hereditary cancer-predisposing syndrome 2014-06-17 criteria provided, single submitter clinical testing
Invitae RCV000160911 SCV000252804 benign Hereditary cancer-predisposing syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000409247 SCV000489105 likely benign Nijmegen breakage syndrome-like disorder 2016-08-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589524 SCV000698656 benign not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.3879C>T (p.Ile1293Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 266/121258 control chromosomes (1 homozygote) at a frequency of 0.0021937, which is approximately 35 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212928 SCV000705549 benign not specified 2017-01-19 criteria provided, single submitter clinical testing

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