ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1860C>G (p.Leu620=)

gnomAD frequency: 0.00009  dbSNP: rs758451676
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200402 SCV001371350 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Invitae RCV002071856 SCV002400196 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-10-05 criteria provided, single submitter clinical testing

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