ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)

gnomAD frequency: 0.00278  dbSNP: rs116445698
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114245 SCV000147803 benign not specified 2013-08-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000114245 SCV000227859 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000114245 SCV000316332 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000419164 SCV000510638 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000419164 SCV000517164 likely benign not provided 2020-03-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000419164 SCV000892858 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TMEM67: BP4, BS2
Invitae RCV001079645 SCV001000731 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163245 SCV001325265 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001163246 SCV001325266 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001163247 SCV001325267 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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