ClinVar Miner

Submissions for variant NM_001905.4(CTPS1):c.1617A>G (p.Pro539=)

gnomAD frequency: 0.00400  dbSNP: rs138555227
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000652311 SCV000774180 benign Severe combined immunodeficiency due to CTPS1 deficiency 2024-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714108 SCV005288307 benign not provided criteria provided, single submitter not provided

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