ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu)

gnomAD frequency: 0.00048  dbSNP: rs28939693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439563 SCV000514895 likely benign not specified 2015-07-09 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.
Illumina Laboratory Services, Illumina RCV000007399 SCV001282696 benign Holoprosencephaly 4 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV000007399 SCV001623602 likely benign Holoprosencephaly 4 2023-12-13 criteria provided, single submitter clinical testing
OMIM RCV000007399 SCV000027598 pathogenic Holoprosencephaly 4 2003-02-01 no assertion criteria provided literature only

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