Submissions for variant NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)

gnomAD frequency: 0.00001  dbSNP: rs780770984

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000598220	SCV000706013	uncertain significance	not provided	2017-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000817532	SCV000958098	likely benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2024-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000598220	SCV001772122	uncertain significance	not provided	2023-03-27	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics	RCV002476313	SCV002789732	uncertain significance	Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3	2022-04-21	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271341	SCV001452426	uncertain significance	Familial aplasia of the vermis	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530699	SCV004743786	likely benign	RPGRIP1L-related disorder	2022-03-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).