ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) (rs139027171)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488231 SCV000574758 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718500 SCV000849364 uncertain significance Seizures 2018-02-28 criteria provided, single submitter clinical testing The p.P2844L variant (also known as c.8531C>T), located in coding exon 61 of the SZT2 gene, results from a C to T substitution at nucleotide position 8531. The proline at codon 2844 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000488231 SCV001000891 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000488231 SCV001770602 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000488231 SCV001932609 likely benign not provided no assertion criteria provided clinical testing

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