ClinVar Miner

Submissions for variant NM_005732.3(RAD50):c.2910C>T (p.Asp970=) (rs148269640)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000030966 SCV000053556 vsb Familial cancer of breast 2012-10-20 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000162538 SCV000212939 likely benign Hereditary cancer-predisposing syndrome 2014-09-18 criteria provided, single submitter clinical testing
Counsyl RCV000411437 SCV000488606 benign Nijmegen breakage syndrome-like disorder 2016-06-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780658 SCV000918114 benign not specified 2017-11-20 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.2910C>T (p.Asp970Asp) 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 407/275472 control chromosomes at a frequency of 0.0014775, which is approximately 24 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.
Invitae RCV000162538 SCV000261669 benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing

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