ClinVar Miner

Submissions for variant NM_020831.6(MRTFA):c.2518-15del

dbSNP: rs367823907
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 RCV001516256 SCV001724516 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501790 SCV002805267 likely benign Immunodeficiency 66 2022-04-11 criteria provided, single submitter clinical testing

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