ClinVar Miner

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

gnomAD frequency: 0.39505  dbSNP: rs1290649
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Genome-Nilou Lab RCV001789201 SCV002031512 benign Charcot-Marie-Tooth disease type 2B2 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 RCV001789202 SCV002031514 benign Microcephaly, seizures, and developmental delay 2021-10-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147360 SCV000194735 likely benign not specified no assertion criteria provided clinical testing

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