ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.498+23A>T

gnomAD frequency: 0.39437  dbSNP: rs1290649
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000829947 SCV005309241 benign not provided criteria provided, single submitter not provided
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000147360 SCV005087649 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 47% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 44. Only high quality variants are reported.
Genome-Nilou Lab RCV001789202 SCV002031514 benign Microcephaly, seizures, and developmental delay 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789203 SCV002031513 benign Ataxia - oculomotor apraxia type 4 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789201 SCV002031512 benign Charcot-Marie-Tooth disease type 2B2 2021-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000829947 SCV000971679 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000147360 SCV000194735 likely benign not specified no assertion criteria provided clinical testing

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