ClinVar Miner

Submissions for variant NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) (rs587777743)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles RCV000144247 SCV000998512 likely pathogenic Microcephaly, short stature, and impaired glucose metabolism 1 criteria provided, single submitter clinical testing
OMIM RCV000144247 SCV000189379 pathogenic Microcephaly, short stature, and impaired glucose metabolism 1 2013-10-01 no assertion criteria provided literature only

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