ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)

gnomAD frequency: 0.00010  dbSNP: rs779059079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001448730 SCV001651829 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001751768 SCV001987484 uncertain significance not provided 2021-03-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28421333)

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