ClinVar Miner

Submissions for variant NM_006978.3(RNF113A):c.903_910del (p.Gln302fs)

dbSNP: rs1603374549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001007876 SCV001167579 uncertain significance Trichothiodystrophy 5, nonphotosensitive 2018-02-15 criteria provided, single submitter clinical testing
OMIM RCV001007876 SCV001250597 pathogenic Trichothiodystrophy 5, nonphotosensitive 2020-05-08 no assertion criteria provided literature only

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