ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs)

dbSNP: rs1553787823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV000508615 SCV000299345 pathogenic Visceral myopathy 1 2016-09-15 no assertion criteria provided clinical testing Loss of protein. Functional experiments described in manuscript.
OMIM RCV001804175 SCV000998837 pathogenic Megacystis, microcolon, hypoperistalsis syndrome 2023-09-29 no assertion criteria provided literature only

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