ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3576G>A (p.Arg1192=)

gnomAD frequency: 0.00001  dbSNP: rs750267363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841154 SCV001359760 likely benign Cardiac arrhythmia 2018-11-25 criteria provided, single submitter clinical testing
Invitae RCV003541289 SCV001643183 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing

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