ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.2220C>G (p.Leu740=)

gnomAD frequency: 0.00001  dbSNP: rs1456465949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002022701 SCV002288680 likely benign not provided 2021-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002423234 SCV002724888 likely benign Inborn genetic diseases 2022-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003126082 SCV003801780 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126083 SCV003801781 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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