ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4878T>C (p.Asp1626=) (rs755687834)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167056 SCV000217883 likely benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
Invitae RCV001080831 SCV000622538 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000601796 SCV000728659 likely benign not specified 2017-09-29 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755832 SCV000883422 likely benign not provided 2018-06-13 criteria provided, single submitter clinical testing The ATM c.4878T>C; p.Asp1626Asp variant (rs755687834), to our knowledge, is not reported in the medical literature but is reported as likely benign in ClinVar (Variation ID: 187337). This variant is found in the general Latino population with an allele frequency of 0.01% (4/33576 alleles), in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, this variant is considered to be likely benign.

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