ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.852del (p.Glu284fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004576396 SCV005060339 likely pathogenic Cerebrooculofacioskeletal syndrome 2 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023580 SCV005648415 likely pathogenic Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2024-04-05 criteria provided, single submitter clinical testing

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