ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly)

gnomAD frequency: 0.00002  dbSNP: rs565807712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691330 SCV000819106 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-10-17 criteria provided, single submitter clinical testing

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