ClinVar Miner

Submissions for variant NM_000344.3(SMN1):c.419A>T (p.Asp140Val) (rs1554081968)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516973 SCV000615351 uncertain significance not specified 2017-01-17 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000785809 SCV000924378 pathogenic not provided 2016-03-03 criteria provided, single submitter clinical testing
Invitae RCV000797472 SCV000937031 uncertain significance Spinal muscular atrophy 2018-12-14 criteria provided, single submitter clinical testing

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