ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5595T>C (p.His1865=) (rs772261410)

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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 RCV000218108 SCV000273957 likely benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing
Color RCV000218108 SCV000904622 likely benign Hereditary cancer-predisposing syndrome 2018-01-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780888 SCV000918518 uncertain significance not specified 2017-10-20 criteria provided, single submitter clinical testing Variant summary: The ATM variant, c.5595T>C (p.His1865His) causes a synonymous change that involves a non-conserved nucleotide and 5/5 programs in Alamut predict that this variant does not affect the normal splicing pattern, however, no functional studies supporting these predictions were published at the time of evaluation. The variant is present in control datasets of ExAC and gnomAD at a low frequency of 0.000008 (1/120904 and 2/245704 chrs tested, respectively. These individual frequencies do not exceed the estimated maximum allele frequency for a pathogenic allele in this gene (0.0039). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Likely Benign by clinical diagnostic laboratories. Taking together, the variant was classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000476630 SCV000558431 likely benign Ataxia-telangiectasia syndrome 2016-12-21 criteria provided, single submitter clinical testing

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