ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.1574-10C>T

gnomAD frequency: 0.00421  dbSNP: rs192537441
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000408064 SCV000406987 benign Amyotrophic neuralgia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000958232 SCV001105061 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001287943 SCV001474711 benign not specified 2020-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000958232 SCV001860528 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000408064 SCV002514388 benign Amyotrophic neuralgia 2021-12-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001287943 SCV001917874 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000958232 SCV001931651 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000958232 SCV001976011 likely benign not provided no assertion criteria provided clinical testing

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