ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.222G>A (p.Arg74=)

gnomAD frequency: 0.00056  dbSNP: rs769058832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712271 SCV000528879 likely benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Invitae RCV002230058 SCV002508415 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-11-13 criteria provided, single submitter clinical testing

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