ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.271+17T>A

gnomAD frequency: 0.00005  dbSNP: rs761588579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003636426 SCV004515131 likely benign MHC class II deficiency 2024-06-26 criteria provided, single submitter clinical testing

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