ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)

gnomAD frequency: 0.00064  dbSNP: rs148584272
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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 RCV001241213 SCV001414218 benign Congenital hyperammonemia, type I 2024-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692296 SCV005188256 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001241213 SCV002076219 uncertain significance Congenital hyperammonemia, type I 2020-01-14 no assertion criteria provided clinical testing

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