ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.1053G>C (p.Lys351Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr.Nikuei Genetic Center RCV004698714 SCV005200282 benign Myopathy, congenital, with structured cores and z-line abnormalities 2024-06-27 criteria provided, single submitter clinical testing

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