ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.5658C>T (p.Val1886=)

gnomAD frequency: 0.00063  dbSNP: rs141161490
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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 RCV000464217 SCV000554220 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000464217 SCV002822700 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing SCN3A: BP4, BP7, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000464217 SCV005879720 benign not provided 2024-11-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729604 SCV001978342 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000464217 SCV001979602 likely benign not provided no assertion criteria provided clinical testing

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