ClinVar Miner

Submissions for variant NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)

dbSNP: rs1554066666
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517430 SCV000615357 pathogenic not provided 2017-07-31 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000517430 SCV000924384 uncertain significance not provided 2016-03-18 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000009735 SCV002581166 pathogenic Kugelberg-Welander disease 2022-07-25 criteria provided, single submitter clinical testing
OMIM RCV000009734 SCV000029955 pathogenic Spinal muscular atrophy, type II 1997-05-01 no assertion criteria provided literature only
OMIM RCV000009735 SCV000029956 pathogenic Kugelberg-Welander disease 1997-05-01 no assertion criteria provided literature only

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