ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1269G>A (p.Gln423=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002858442 SCV003233175 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-08-23 criteria provided, single submitter clinical testing

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