ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.753_754del (p.Phe252fs)

dbSNP: rs1592421398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002462242 SCV002756787 pathogenic not provided 2022-05-23 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32360764, 9138149)
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000984430 SCV001055786 pathogenic Aniridia 1 2019-08-15 no assertion criteria provided clinical testing

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