ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7902C>T (p.Cys2634=)

gnomAD frequency: 0.00008  dbSNP: rs553715098
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827047 SCV000968659 likely benign not provided 2019-06-03 criteria provided, single submitter clinical testing
Invitae RCV000827047 SCV001684239 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000827047 SCV002497229 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ATR: BP4, BP7
Ambry Genetics RCV002409000 SCV002675648 likely benign Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV002478939 SCV002802837 likely benign Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2021-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127481 SCV003802504 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127482 SCV003802505 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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