ClinVar Miner

Submissions for variant NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) (rs1554066659)

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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 RCV000713373 SCV000843973 pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000009736 SCV000924377 likely pathogenic Kugelberg-Welander disease 2016-03-03 criteria provided, single submitter clinical testing
OMIM RCV000009736 SCV000029957 pathogenic Kugelberg-Welander disease 1997-05-01 no assertion criteria provided literature only

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