ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)

dbSNP: rs757984572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Institute, Tel Aviv Sourasky Medical Center RCV001391255 SCV001593204 pathogenic Ventriculomegaly; Abnormal brainstem morphology 2021-05-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132493 SCV003809676 uncertain significance not provided 2019-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040272 SCV005674900 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2024-03-05 criteria provided, single submitter clinical testing

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