ClinVar Miner

Submissions for variant NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)

dbSNP: rs564856283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center RCV000408887 SCV000267938 pathogenic not provided 2016-05-06 criteria provided, single submitter clinical testing
OMIM RCV000850132 SCV000992296 pathogenic Myopathy, congenital, with tremor 2023-03-10 no assertion criteria provided literature only

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