ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.531C>T (p.His177=)

gnomAD frequency: 0.00019  dbSNP: rs376195897
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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) RCV000328814 SCV000333493 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087171 SCV001016353 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542999 SCV004778579 likely benign CRPPA-related disorder 2024-01-23 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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