ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) (rs115244417)

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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 RCV000129222 SCV000183976 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396813 SCV000374935 likely benign Ataxia-telangiectasia-like disorder 1 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000396813 SCV000488590 benign Ataxia-telangiectasia-like disorder 1 2016-06-03 criteria provided, single submitter clinical testing
Invitae RCV000589426 SCV000558609 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589426 SCV000698599 benign not provided 2016-05-06 criteria provided, single submitter clinical testing Variant summary: The MRE11A c.1002C>G variant affects a non-conserved nucleotide, resulting in amino acid change from Ser to Arg. 2/3 in-silico tools predict this variant to be benign (SNPs&GO and Mutation Taster not captured due to low reliability index). This variant was found in 502/120966 control chromosomes (8 homozygotes) at a frequency of 0.0041499, which is about 66 times the maximal expected frequency of a pathogenic MRE11A allele (0.0000625), highly suggesting this variant is benign. In addition, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.

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