ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.1440-8T>C

gnomAD frequency: 0.15291  dbSNP: rs9972635
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515398 SCV001723465 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796537 SCV002033638 benign Severe combined immunodeficiency due to CARMIL2 deficiency 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515398 SCV005249028 benign not provided criteria provided, single submitter not provided

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