ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2959+8_2959+14del

dbSNP: rs765645129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000900556 SCV001044881 likely benign Congenital hyperammonemia, type I 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001551201 SCV001771660 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000900556 SCV001457524 uncertain significance Congenital hyperammonemia, type I 2020-01-17 no assertion criteria provided clinical testing

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