ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)

gnomAD frequency: 0.00027  dbSNP: rs150012540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245745 SCV001419050 likely benign Congenital hyperammonemia, type I 2025-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692324 SCV005188257 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001245745 SCV002076238 uncertain significance Congenital hyperammonemia, type I 2020-01-24 no assertion criteria provided clinical testing

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