ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)

dbSNP: rs551261693
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000944831 SCV001090812 likely benign Congenital hyperammonemia, type I 2024-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944831 SCV001457520 uncertain significance Congenital hyperammonemia, type I 2020-01-24 no assertion criteria provided clinical testing

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