ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2322+3A>G

gnomAD frequency: 0.00575  dbSNP: rs79037278
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204934 SCV000260376 benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-29 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239097 SCV000297320 benign not specified 2015-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000239097 SCV000314418 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001573219 SCV000521272 benign not provided 2019-06-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21258341, 31180159)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573219 SCV000605473 benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Mendelics RCV000986866 SCV001136011 benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001135707 SCV001295503 likely benign Nephronophthisis 12 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 RCV001135708 SCV001295504 likely benign Asphyxiating thoracic dystrophy 4 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). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277565 SCV002567131 benign Connective tissue disorder 2022-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500650 SCV002813107 benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-04-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573219 SCV004147155 benign not provided 2023-04-01 criteria provided, single submitter clinical testing TTC21B: BP4, BS1, BS2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001135707 SCV005038880 benign Nephronophthisis 12 2024-03-14 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573219 SCV001798744 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000239097 SCV001930907 benign not specified no assertion criteria provided clinical testing

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