ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.954C>T (p.Asn318=) (rs372623225)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713151 SCV000843730 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Color RCV000771860 SCV000904581 likely benign Arrhythmia 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV000555708 SCV000637208 likely benign Brugada syndrome 2017-05-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000601094 SCV000710931 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing p.Asn318Asn in exon 8 of SCN5A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 8/16512 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs372623225).

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