ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.872C>T (p.Thr291Ile)

dbSNP: rs1264403798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075779 SCV001241412 uncertain significance Retinal dystrophy 2019-07-03 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376358 SCV001573475 uncertain significance Retinitis pigmentosa 26 2021-04-08 criteria provided, single submitter research The CERKL c.950C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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