ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1080C>T (p.His360=)

gnomAD frequency: 0.00001  dbSNP: rs776866129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393483 SCV000345099 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765682 SCV004569945 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2024-09-23 criteria provided, single submitter clinical testing

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