ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr)

dbSNP: rs1553575390
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Total submissions: 4
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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 RCV000662218 SCV000784575 uncertain significance Congenital myasthenic syndrome 3A 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662219 SCV000784576 uncertain significance Congenital myasthenic syndrome 3B 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662220 SCV000784577 uncertain significance Congenital myasthenic syndrome 3C 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662221 SCV000784578 uncertain significance Congenital myasthenic syndrome 2018-03-05 criteria provided, single submitter clinical testing

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