ClinVar Miner

Submissions for variant NM_001905.4(CTPS1):c.556-16T>G

gnomAD frequency: 0.02074  dbSNP: rs116700741
Minimum review status: Collection method:
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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 RCV001518354 SCV001727030 benign Severe combined immunodeficiency due to CTPS1 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715458 SCV005288301 benign not provided criteria provided, single submitter not provided

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