ClinVar Miner

Submissions for variant NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs)

dbSNP: rs386833999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049976 SCV000082385 probable-pathogenic Mulibrey nanism syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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