ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8786+16T>C

dbSNP: rs1057521277
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443411 SCV000522030 likely benign not specified 2015-12-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062474 SCV002368481 likely benign Ataxia-telangiectasia syndrome 2022-09-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506035 SCV002806047 likely benign Familial cancer of breast; Ataxia-telangiectasia syndrome 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703943 SCV005219164 likely benign not provided criteria provided, single submitter not provided

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