ClinVar Miner

Submissions for variant NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter)

dbSNP: rs992189342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626728 SCV000747431 likely pathogenic Primary dilated cardiomyopathy 2017-01-01 criteria provided, single submitter clinical testing
OMIM RCV004588004 SCV005077976 pathogenic Cardiomyopathy, dilated, 2K 2024-07-15 no assertion criteria provided literature only

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