ClinVar Miner

Submissions for variant NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)

dbSNP: rs746572548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000754765 SCV002574739 pathogenic Intellectual developmental disorder, autosomal recessive 68 2022-06-30 criteria provided, single submitter clinical testing
OMIM RCV000754765 SCV000882655 pathogenic Intellectual developmental disorder, autosomal recessive 68 2011-09-21 no assertion criteria provided literature only

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