ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*728C>T

gnomAD frequency: 0.00284  dbSNP: rs2230767
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084764 SCV000660161 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713734 SCV000844363 likely benign not provided 2018-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000713734 SCV001790490 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32557143)
Ambry Genetics RCV002527959 SCV003703509 likely benign Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000713734 SCV004153092 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003952906 SCV004774286 likely benign SYNJ1-related disorder 2020-01-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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