ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4332G>A (p.Leu1444=) (rs753570046)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163922 SCV000214517 likely benign Hereditary cancer-predisposing syndrome 2015-10-22 criteria provided, single submitter clinical testing
Color RCV000163922 SCV000682196 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Counsyl RCV000458861 SCV000796495 likely benign Ataxia-telangiectasia syndrome 2017-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000605689 SCV000729548 likely benign not specified 2017-10-09 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 RCV000588225 SCV000694276 uncertain significance not provided 2016-11-18 criteria provided, single submitter clinical testing Variant summary: The ATM c.4332G>A (p.Leu1444Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant while 4/5 splice site tools predict the variant not to have an impact on normal splicing. This variant is absent in 119444 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. A clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000458861 SCV000558303 likely benign Ataxia-telangiectasia syndrome 2017-10-19 criteria provided, single submitter clinical testing

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