ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.335G>A (p.Arg112His) (rs121913020)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424822 SCV000516727 pathogenic not provided 2021-03-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25795128, 12820975, 25897079, 15494306, 18817897, 23232694, 23800062, 12458209, 25431422, 25605938, 10667598, 27982466, 27085493, 27262611, 7920640, 9758621, 25620205, 23221806, 30580289)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000424822 SCV001501743 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
OMIM RCV000018273 SCV000038552 pathogenic Trichothiodystrophy 1, photosensitive 2001-10-15 no assertion criteria provided literature only
OMIM RCV000018274 SCV000038553 pathogenic Xeroderma pigmentosum, group D 2001-10-15 no assertion criteria provided literature only

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