ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) (rs376556895)

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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 RCV001292729 SCV001481358 uncertain significance Trichothiodystrophy 1, photosensitive 2020-07-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PerkinElmer Genomics RCV001780237 SCV002022195 pathogenic not provided 2021-09-23 no assertion criteria provided clinical testing

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