Submissions for variant NM_024570.4(RNASEH2B):c.822+6T>C

gnomAD frequency: 0.00705  dbSNP: rs76413207

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000548952	SCV000384598	benign	Aicardi-Goutieres syndrome 2	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000517745	SCV000614885	benign	not specified	2017-01-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548952	SCV000652370	benign	Aicardi-Goutieres syndrome 2	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001731592	SCV001983246	likely benign	not provided	2021-04-16	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001731592	SCV005215642	likely benign	not provided		criteria provided, single submitter	not provided