ClinVar Miner

Submissions for variant NM_133443.4(GPT2):c.815C>T (p.Pro272Leu) (rs886038199)

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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, Oman RCV000241536 SCV000891604 uncertain significance Mental retardation, autosomal recessive 49 2017-12-30 criteria provided, single submitter curation
OMIM RCV000241536 SCV000301457 pathogenic Mental retardation, autosomal recessive 49 2020-11-05 no assertion criteria provided literature only

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