ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.634C>T (p.His212Tyr) (rs574183358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000885273 SCV001028708 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2019-12-31 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477894 SCV000536793 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2 2016-06-27 no assertion criteria provided research

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