ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6975+9T>C

gnomAD frequency: 0.00001  dbSNP: rs1290573965
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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 RCV001406535 SCV001608490 likely benign Ataxia-telangiectasia syndrome 2018-10-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004588407 SCV005084610 likely benign Familial cancer of breast 2024-06-12 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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