ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr)

dbSNP: rs571551238
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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) RCV000732216 SCV000860139 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing
Invitae RCV001411774 SCV001613840 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-11-27 criteria provided, single submitter clinical testing

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