Submissions for variant NM_003466.4(PAX8):c.1189+15G>A

gnomAD frequency: 0.00262  dbSNP: rs149585280

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000270972	SCV000416090	uncertain significance	Hypothyroidism, congenital, nongoitrous, 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV001702003	SCV004149054	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	PAX8: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001702003	SCV005187871	uncertain significance	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001699460	SCV001919746	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702003	SCV001930238	likely benign	not provided		no assertion criteria provided	clinical testing