ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2238C>T (p.Phe746=) (rs786203595)

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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 RCV000166976 SCV000217797 likely benign Hereditary cancer-predisposing syndrome 2014-11-27 criteria provided, single submitter clinical testing
Color RCV000166976 SCV000913560 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000439986 SCV000518446 likely benign not specified 2016-03-09 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 RCV000586992 SCV000694212 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The ATM c.2238C>T (p.Phe746Phe) 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 does not affect any ESE site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121176 control chromosomes. This variant has been found in one internally tested individual who also carries a BRCA2 variant (c.7985C>A/p.T2662K, VUS-possibly pathogenic). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000205634 SCV000262187 likely benign Ataxia-telangiectasia syndrome 2017-09-13 criteria provided, single submitter clinical testing

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