ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.216C>A (p.His72Gln)

dbSNP: rs397515436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004587609 SCV005038507 likely pathogenic Myopathy, autophagic vacuolar, infantile-onset 2024-03-01 criteria provided, single submitter research PM1+PM2+PP1+PP3+PP5

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