ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=)

gnomAD frequency: 0.00002  dbSNP: rs727504104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723814 SCV000203340 uncertain significance not provided 2014-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000188730 SCV000242354 benign not specified 2014-06-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000276079 SCV001388948 likely benign Epilepsy, progressive myoclonic, 1B 2023-03-14 criteria provided, single submitter clinical testing

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