ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) (rs138028425)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000203154 SCV000258083 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000767160 SCV000572645 benign not provided 2019-06-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564332)
Invitae RCV000767160 SCV001000990 benign not provided 2020-11-06 criteria provided, single submitter clinical testing

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