ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1201-3A>T

gnomAD frequency: 0.08382  dbSNP: rs844988
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518259 SCV001726922 benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001712932 SCV001941108 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712932 SCV005307698 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579407 SCV001807126 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579407 SCV001966826 benign not specified no assertion criteria provided clinical testing

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