ClinVar Miner

Submissions for variant NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) (rs3212977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000885540 SCV001028992 likely benign not provided 2018-07-04 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723350 SCV000854749 uncertain significance Cerebrooculofacioskeletal syndrome 4 2018-08-09 no assertion criteria provided clinical testing

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