ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.21C>T (p.Leu7=)

gnomAD frequency: 0.00054  dbSNP: rs147815442
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162462 SCV000212820 likely benign Hereditary cancer-predisposing syndrome 2014-07-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080864 SCV000287765 benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298176 SCV000351447 likely benign Hereditary pheochromocytoma-paraganglioma 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.
Illumina Laboratory Services, Illumina RCV000355406 SCV000351448 likely benign Carney-Stratakis syndrome 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.
GeneDx RCV000232093 SCV000724260 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12362046)
CeGaT Center for Human Genetics Tuebingen RCV000232093 SCV001147174 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000614565 SCV002066299 likely benign not specified 2020-02-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162462 SCV002527064 likely benign Hereditary cancer-predisposing syndrome 2021-07-14 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000614565 SCV004024768 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514318 SCV004362286 benign Paragangliomas 4 2022-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000232093 SCV005259515 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000614565 SCV001809053 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000614565 SCV001930700 benign not specified no assertion criteria provided clinical testing

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