ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=)

gnomAD frequency: 0.00003  dbSNP: rs145204452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231115 SCV000288583 likely benign Benign neonatal seizures 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402698 SCV000471899 uncertain significance Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095194 SCV000471900 benign Seizures, benign familial neonatal, 2 2018-01-12 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.
GeneDx RCV001722241 SCV000728608 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing

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