ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.9C>T (p.Ala3=)

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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 RCV003785960 SCV004567864 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-03-09 criteria provided, single submitter clinical testing

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