ClinVar Miner

Submissions for variant NM_006147.4(IRF6):c.459G>T (p.Ser153=)

gnomAD frequency: 0.35925  dbSNP: rs2013162
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251393 SCV000311389 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345570 SCV000353835 benign Orofacial cleft 6, susceptibility to 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. 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.
Illumina Laboratory Services, Illumina RCV000402163 SCV000353836 benign Van der Woude syndrome 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001513695 SCV001721356 benign Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668517 SCV001889877 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730630 SCV001980731 benign Autosomal dominant popliteal pterygium syndrome 2021-08-19 criteria provided, single submitter clinical testing

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