ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.836-9del

dbSNP: rs3839757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308621 SCV000468010 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992185 SCV001144253 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513943 SCV001721652 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2025-01-20 criteria provided, single submitter clinical testing

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