ClinVar Miner

Submissions for variant NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp)

dbSNP: rs1006351159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330363 SCV001522016 uncertain significance Intellectual developmental disorder, autosomal recessive 68 2020-07-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001760427 SCV001998785 uncertain significance not provided 2020-01-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001330363 SCV003821521 uncertain significance Intellectual developmental disorder, autosomal recessive 68 2021-05-06 criteria provided, single submitter clinical testing

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