ClinVar Miner

Submissions for variant NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=)

gnomAD frequency: 0.00004  dbSNP: rs778368877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330362 SCV001522015 uncertain significance Intellectual developmental disorder, autosomal recessive 68 2020-03-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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