ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+321G>A (rs72558028)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171029 SCV000223593 benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000990193 SCV000291893 likely benign Brugada syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716946 SCV000847791 likely benign Seizures 2018-07-17 criteria provided, single submitter clinical testing Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000171029 SCV000864302 likely benign not specified 2017-11-06 criteria provided, single submitter clinical testing BP4, BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Mendelics RCV000990193 SCV001141046 benign Brugada syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000226408 SCV001151769 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing

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