ClinVar Miner

Submissions for variant NM_003690.5(PRKRA):c.861C>T (p.Ser287=)

gnomAD frequency: 0.00976  dbSNP: rs116833881
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556543 SCV001778148 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000615771 SCV002801620 likely benign Dystonia 16 2021-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000615771 SCV003783820 likely benign Dystonia 16 2022-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615771 SCV000734161 likely benign Dystonia 16 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001556543 SCV001965371 likely benign not provided no assertion criteria provided clinical testing

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