ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*611C>T

gnomAD frequency: 0.00609  dbSNP: rs76056543
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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 RCV001082702 SCV000660160 benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713733 SCV000844362 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000713733 SCV001823766 likely benign not provided 2019-09-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713733 SCV005206192 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000713733 SCV005875890 benign not provided 2024-09-17 criteria provided, single submitter clinical testing

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