Submissions for variant NM_019892.6(INPP5E):c.813-5C>G

gnomAD frequency: 0.00238  dbSNP: rs186462782

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000477158	SCV000560636	benign	Familial aplasia of the vermis	2024-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001166952	SCV001329379	likely benign	Joubert syndrome 1	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 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.
GeneDx	RCV001556105	SCV001777624	likely benign	not provided	2019-06-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701018	SCV001925196	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001556105	SCV001966612	likely benign	not provided		no assertion criteria provided	clinical testing