ClinVar Miner

Submissions for variant NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) (rs1057515578)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Experimental Endocrinology,Slovak Academy of Sciences RCV000408899 SCV000321546 uncertain significance MEHMO syndrome 2016-12-12 criteria provided, single submitter clinical testing missense in a gene with high constraint (z=3.81 in ExAc), not found in ExAc, in silico analysis - pathogenic, specific phenotype, no effect in functional study in yeast
OMIM RCV000408899 SCV000678692 pathogenic MEHMO syndrome 2018-01-19 no assertion criteria provided literature only

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