ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.3346C>A (p.Pro1116Thr)

dbSNP: rs1557585339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714713 SCV000845439 uncertain significance Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2018-08-07 criteria provided, single submitter clinical testing

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