Submissions for variant NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)

gnomAD frequency: 0.00028  dbSNP: rs139119218

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174604	SCV000225926	uncertain significance	not provided	2014-08-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297049	SCV000405826	likely benign	Cone-rod dystrophy 5	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000174604	SCV001222671	likely benign	not provided	2025-01-15	criteria provided, single submitter	clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787862	SCV000926878	uncertain significance	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research