ClinVar Miner

Submissions for variant NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)

dbSNP: rs386654705
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000321490 SCV000332265 benign not specified 2015-06-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494816 SCV002800237 likely benign Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 2021-11-11 criteria provided, single submitter clinical testing
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003243036 SCV003936836 likely benign Congenital hyperammonemia, type I 2023-07-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000509533 SCV004562358 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509533 SCV000607290 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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