ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1773T>C (p.Asn591=) (rs61734356)

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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 RCV000123723 SCV000213137 likely benign Hereditary cancer-predisposing syndrome 2014-09-12 criteria provided, single submitter clinical testing
Color RCV000123723 SCV000537441 likely benign Hereditary cancer-predisposing syndrome 2015-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000211968 SCV000167066 benign not specified 2014-04-29 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.
Integrated Genetics/Laboratory Corporation of America RCV000586823 SCV000694198 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The ATM c.1773T>C (p.Asn591Asn) variant causes a synonymous change involving a non-conserved nucleotide, 4/5 splice prediction tools predict no significant impact on normal splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 15/120952 (1/4442), which does not exceed the estimated maximal expected allele frequency for a pathogenic ATM variant of 1/999 for Breast Cancer. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, however, multiple clinical diagnostic laboratories cite the variant as "likely benign/benign." Therefore, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000196069 SCV000252943 likely benign Ataxia-telangiectasia syndrome 2018-01-03 criteria provided, single submitter clinical testing

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