ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) (rs41295338)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252909 SCV000303824 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252909 SCV000514896 likely benign not specified 2015-05-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658687 SCV000780473 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000658687 SCV001110112 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000013298 SCV001267281 uncertain significance Autosomal recessive congenital ichthyosis 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000013298 SCV000033545 pathogenic Autosomal recessive congenital ichthyosis 1 1995-01-27 no assertion criteria provided literature only

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