ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6808-7A>G

dbSNP: rs2085644108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189059 SCV001356254 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing This variant causes an A>G nucleotide substitution at the -7 position of intron 46 of the ATM gene. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001502921 SCV001707761 likely benign Ataxia-telangiectasia syndrome 2019-07-10 criteria provided, single submitter clinical testing

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