ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.24G>T (p.Arg8=)

dbSNP: rs2146433761
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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 RCV002201151 SCV002481448 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-10-21 criteria provided, single submitter clinical testing

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