ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser)

gnomAD frequency: 0.00009  dbSNP: rs373134516
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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) RCV000280377 SCV000343694 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV001088571 SCV000652578 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-12-18 criteria provided, single submitter clinical testing

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