ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.1080G>A (p.Ser360=)

gnomAD frequency: 0.00073  dbSNP: rs149110951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593506 SCV000702908 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001128703 SCV001288189 benign Holoprosencephaly 9 2017-05-16 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 RCV002062018 SCV002355818 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-08-18 criteria provided, single submitter clinical testing

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