ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463353 SCV004206012 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2022-11-15 criteria provided, single submitter clinical testing

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