ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.417C>T (p.Tyr139=)

gnomAD frequency: 0.00016  dbSNP: rs529637184
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894918 SCV001038933 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001294156 SCV001482981 uncertain significance Trichothiodystrophy 2, photosensitive 2018-12-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003958021 SCV004768992 likely benign ERCC3-related condition 2019-12-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000894918 SCV001926563 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000894918 SCV001972224 likely benign not provided no assertion criteria provided clinical testing

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