ClinVar Miner

Submissions for variant NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter)

dbSNP: rs778054296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330476 SCV001522158 pathogenic Spinal muscular atrophy with congenital bone fractures 2 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001330476 SCV005016541 pathogenic Spinal muscular atrophy with congenital bone fractures 2 2024-03-14 criteria provided, single submitter clinical testing

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