ClinVar Miner

Submissions for variant NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys)

gnomAD frequency: 0.00006  dbSNP: rs372781135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000173021 SCV000224040 pathogenic Hypomyelinating leukodystrophy 10 2015-05-07 no assertion criteria provided literature only
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000173021 SCV000891588 likely pathogenic Hypomyelinating leukodystrophy 10 2017-12-30 no assertion criteria provided curation

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