ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)

gnomAD frequency: 0.00001  dbSNP: rs148054819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337572 SCV000337687 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV001257052 SCV001020349 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000337572 SCV002545495 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CRPPA: BP4, BP7

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