ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1511-4A>G

gnomAD frequency: 0.00003  dbSNP: rs533995497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941256 SCV001087139 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545933 SCV003552250 uncertain significance Inborn genetic diseases 2022-10-13 criteria provided, single submitter clinical testing The c.1628-4A>G intronic alteration consists of an A to G substitution 4 nucleotides before exon 13 of the SYNJ1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003432939 SCV004153101 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SYNJ1: BP4

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