ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1895+1G>A (rs386834024)

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Total submissions: 2
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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) RCV000050005 SCV000082414 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000240866 SCV000299363 pathogenic Retinitis pigmentosa 76 2012-07-15 no assertion criteria provided literature only

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