ClinVar Miner

Submissions for variant NM_000344.3(SMN1):c.818A>T (p.His273Leu) (rs1554082114)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516182 SCV000615356 uncertain significance not specified 2017-07-18 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000785806 SCV000924374 likely pathogenic not provided 2016-03-01 criteria provided, single submitter clinical testing

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