ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.428-21T>C

gnomAD frequency: 0.88267  dbSNP: rs11243404
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243146 SCV000311756 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000833471 SCV000975234 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001789293 SCV002031739 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789291 SCV002031740 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789292 SCV002031743 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765532 SCV004573789 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-04-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833471 SCV005324274 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000243146 SCV001917376 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243146 SCV001967261 benign not specified no assertion criteria provided clinical testing

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