ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)

dbSNP: rs762494955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669965 SCV000794768 uncertain significance Congenital hyperammonemia, type I 2017-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499168 SCV002777107 uncertain significance Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 2022-02-14 criteria provided, single submitter clinical testing

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