Submissions for variant NM_000379.4(XDH):c.1857-4G>A

gnomAD frequency: 0.00541  dbSNP: rs17395175

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000398364	SCV000430044	likely benign	Hereditary xanthinuria type 1	2018-01-12	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000960535	SCV001107523	benign	Xanthinuria type II	2024-01-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000398364	SCV002513972	benign	Hereditary xanthinuria type 1	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422313	SCV004144052	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	XDH: BP4, BS2