ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2421T>C (p.His807=)

gnomAD frequency: 0.00001  dbSNP: rs1387272253
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001467063 SCV001671080 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-02-23 criteria provided, single submitter clinical testing

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