Submissions for variant NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)

gnomAD frequency: 0.00128  dbSNP: rs115563233

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251115	SCV000316334	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000723708	SCV000331449	uncertain significance	not provided	2018-06-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087450	SCV001002891	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163248	SCV001325268	likely benign	Meckel syndrome, type 3	2017-06-01	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001163249	SCV001325269	benign	Joubert syndrome 6	2017-06-01	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001163250	SCV001325270	benign	Nephronophthisis 11	2017-06-01	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294093	SCV002587726	uncertain significance	Kidney disorder	2016-12-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723708	SCV004156008	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TMEM67: PP3, BS1, BS2
GeneReviews	RCV000234818	SCV000292017	not provided	Nephronophthisis		no assertion provided	literature only