ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly)

gnomAD frequency: 0.00105  dbSNP: rs149817769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557586 SCV000660139 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV005054219 SCV005687950 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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