ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.735G>A (p.Pro245=)

gnomAD frequency: 0.00006  dbSNP: rs748164001
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177203 SCV000229041 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558693 SCV000650627 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818427 SCV002068699 uncertain significance not specified 2019-04-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000177203 SCV004147396 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing DAG1: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV000558693 SCV005662598 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-05-24 criteria provided, single submitter clinical testing

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