ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)

dbSNP: rs1593910113
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Total submissions: 2
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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 RCV000791202 SCV000930483 uncertain significance Neuronal ceroid lipofuscinosis 5 2019-04-27 criteria provided, single submitter clinical testing
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences RCV003230275 SCV003926591 likely pathogenic Pontocerebellar hypoplasia type 2D 2023-05-27 criteria provided, single submitter clinical testing

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