ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.324C>T (p.Ile108=)

gnomAD frequency: 0.00003  dbSNP: rs551070196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001463521 SCV001667467 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432893 SCV004153103 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7

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