ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1118+4C>T

dbSNP: rs762719901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001834549 SCV002096981 uncertain significance Trichothiodystrophy 1, photosensitive 2022-01-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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