ClinVar Miner

Submissions for variant NM_001905.4(CTPS1):c.570G>A (p.Gly190=)

gnomAD frequency: 0.00296  dbSNP: rs116134285
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 RCV000966355 SCV001113666 benign Severe combined immunodeficiency due to CTPS1 deficiency 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151242 SCV003839408 likely benign not specified 2022-07-19 no assertion criteria provided clinical testing

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