ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.602T>C (p.Leu201Pro)

dbSNP: rs1555876854
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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 RCV000662205 SCV000784560 uncertain significance Paroxysmal nocturnal hemoglobinuria 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662206 SCV000784561 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3 2018-03-05 criteria provided, single submitter clinical testing

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