ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)

dbSNP: rs1555090139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664518 SCV000788493 likely pathogenic Ataxia-telangiectasia syndrome 2017-11-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004026075 SCV004930883 pathogenic Familial cancer of breast 2024-01-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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