ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) (rs1555228380)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000516224 SCV000616329 uncertain significance Early infantile epileptic encephalopathy 13 2017-09-26 criteria provided, single submitter research
GenomeConnect - CFC International RCV001089757 SCV001245250 not provided not provided no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 10-27-2017 by Lab or GTR ID 167595. GenomeConnect-CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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