ClinVar Miner

Submissions for variant NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)

dbSNP: rs1684443250
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001200056 SCV001370910 pathogenic Treacher Collins syndrome 4 2020-07-06 no assertion criteria provided literature only
GeneReviews RCV003319220 SCV004023291 not provided Treacher Collins syndrome no assertion provided literature only

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