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
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.
PreventionGenetics RCV000250383 SCV000312923 likely benign not specified criteria provided, single submitter clinical testing

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