ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV002291307 SCV002499450 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 criteria provided, single submitter clinical testing

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