ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=)

gnomAD frequency: 0.07370  dbSNP: rs2230766
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713729 SCV000844358 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518258 SCV001726921 benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000713729 SCV001915890 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713729 SCV005307691 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579328 SCV001806819 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579328 SCV001974975 benign not specified no assertion criteria provided clinical testing

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