ClinVar Miner

Submissions for variant NM_020647.4(JPH1):c.354C>A (p.Tyr118Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Harry Perkins Institute Of Medical Research, University Of Western Australia RCV004585042 SCV004228295 likely pathogenic Congenital myopathy 2023-11-17 criteria provided, single submitter research
OMIM RCV004780562 SCV005328502 pathogenic CONGENITAL MYOPATHY 25 2024-09-26 no assertion criteria provided literature only

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