ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4584G>T (p.Val1528=)

dbSNP: rs1555100000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615521 SCV000722517 likely benign not specified 2017-08-30 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 RCV002065260 SCV002414920 likely benign Ataxia-telangiectasia syndrome 2021-03-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592935 SCV005084216 benign Familial cancer of breast 2024-05-20 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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