ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.592C>T (p.Gln198Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004799100 SCV005420643 likely pathogenic Early-onset Parkinson disease 20 2024-10-04 criteria provided, single submitter research PVS1,PM2

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