ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.828T>C (p.Ile276=)

gnomAD frequency: 0.00007  dbSNP: rs201334104
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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) RCV000332676 SCV000345275 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV001082644 SCV001021130 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-12-30 criteria provided, single submitter clinical testing

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