ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter)

gnomAD frequency: 0.00002  dbSNP: rs753585568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995814 SCV001150177 pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2018-02-08 criteria provided, single submitter clinical testing
OMIM RCV000995814 SCV003841081 pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2023-01-19 no assertion criteria provided literature only

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