ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.789+9G>A

gnomAD frequency: 0.00004  dbSNP: rs375132134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000328700 SCV000343380 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229852 SCV002508493 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535422 SCV004709463 likely benign CRPPA-related disorder 2020-10-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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