ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) (rs386834010)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250383 SCV000312923 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000049988 SCV000789433 uncertain significance Muscle eye brain disease 2017-01-31 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049988 SCV000082397 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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