ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)

dbSNP: rs797044873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190683 SCV000244123 likely pathogenic Focal epilepsy; Intellectual disability; Unilateral Hypotonia; Epilepsy with generalized tonic-clonic seizures 2014-06-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001706164 SCV001934425 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-07-15 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
GenomeConnect, ClinGen RCV001249220 SCV001423154 not provided not provided no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 03-09-2018 by Lab or GTR ID 61756. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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