ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys)

dbSNP: rs565013600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624913 SCV000742479 uncertain significance Inborn genetic diseases 2017-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997825 SCV001153547 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001489751 SCV001694303 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-30 criteria provided, single submitter clinical testing

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