ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.2157C>T (p.His719=)

gnomAD frequency: 0.00001  dbSNP: rs150161871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501450 SCV000593536 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing
Invitae RCV000892455 SCV001036327 likely benign not provided 2023-11-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126765 SCV003801787 likely benign Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126766 SCV003801788 likely benign Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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