ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.1509+14C>A

gnomAD frequency: 0.00034  dbSNP: rs200523413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002171131 SCV002429047 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500100 SCV002812036 likely benign Severe combined immunodeficiency due to CARMIL2 deficiency 2021-10-21 criteria provided, single submitter clinical testing

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