Submissions for variant NM_014336.5(AIPL1):c.111C>T (p.Phe37=)

gnomAD frequency: 0.02008  dbSNP: rs11650007

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000393168	SCV000405636	likely benign	Retinitis Pigmentosa, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310197	SCV000405637	likely benign	Leber congenital amaurosis 4	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.
Illumina Laboratory Services, Illumina	RCV000358078	SCV000405638	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000310197	SCV001724228	benign	Leber congenital amaurosis 4	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000086211	SCV001851810	benign	not provided	2018-06-29	criteria provided, single submitter	clinical testing
Retina International	RCV000086211	SCV000118355	not provided	not provided		no assertion provided	not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086211	SCV000119220	not provided	not provided		no assertion provided	not provided