ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=)

gnomAD frequency: 0.00002  dbSNP: rs537302175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532850 SCV000646889 likely benign Epilepsy, progressive myoclonic, 1B 2022-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729637 SCV001978200 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729637 SCV001979945 likely benign not provided no assertion criteria provided clinical testing

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