ClinVar Miner

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

gnomAD frequency: 0.01237  dbSNP: rs117195541
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Total submissions: 13
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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
Invitae RCV000205181 SCV000259435 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-01 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 2024-05-01 criteria provided, single submitter clinical testing TMEM67: BP4, BP7, BS1, BS2
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

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