ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1895+5_1895+8del (rs386834023)

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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) RCV000050007 SCV000082416 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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