ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5094A>G (p.Ala1698=)

gnomAD frequency: 0.00002  dbSNP: rs1331144637
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869610 SCV001011050 likely benign not provided 2021-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336813 SCV002641914 likely benign Inborn genetic diseases 2022-08-03 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.
Genome-Nilou Lab RCV003127528 SCV003801486 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127529 SCV003801487 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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