ClinVar Miner

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

gnomAD frequency: 0.00063  dbSNP: rs141161490
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464217 SCV000554220 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000464217 SCV002822700 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SCN3A: BP4, BP7, BS1
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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