Submissions for variant NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)

gnomAD frequency: 0.01237  dbSNP: rs117195541

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000114247	SCV000147805	benign	not specified	2013-05-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205181	SCV000259435	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000114247	SCV000316335	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158617	SCV001320266	benign	Meckel syndrome, type 3	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001158618	SCV001320267	benign	Nephronophthisis 11	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001158619	SCV001320268	benign	Joubert syndrome 6	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001650942	SCV001861613	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29127258)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294034	SCV002587561	likely benign	Kidney disorder	2022-09-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477265	SCV002801565	likely benign	COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11	2021-10-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001650942	SCV003917617	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TMEM67: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001650942	SCV005264931	benign	not provided		criteria provided, single submitter	not provided
Tolun Lab, Human Genetics Laboratory, Bogazici University	RCV000585745	SCV000583520	uncertain significance	Bardet-Biedl syndrome 14		no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000114247	SCV001927454	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001650942	SCV001967770	likely benign	not provided		no assertion criteria provided	clinical testing