ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7192+19A>G

gnomAD frequency: 0.00005  dbSNP: rs376334522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002171652 SCV002479910 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494504 SCV002795886 likely benign Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2022-05-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126195 SCV003802582 benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126196 SCV003802583 benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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