ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.108C>G (p.Ala36=)

dbSNP: rs1319812253
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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 RCV001472826 SCV001676966 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2020-03-31 criteria provided, single submitter clinical testing

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