ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3285-8G>C

dbSNP: rs1469259085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048292 SCV001212287 uncertain significance Ataxia-telangiectasia syndrome 2021-08-20 criteria provided, single submitter clinical testing This sequence change falls in intron 22 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc. RCV004590055 SCV005084323 likely benign Familial cancer of breast 2024-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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