ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)

gnomAD frequency: 0.00011  dbSNP: rs761842188
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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) RCV000726129 SCV000342214 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000726129 SCV000722783 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088686 SCV001019517 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2024-01-15 criteria provided, single submitter clinical testing

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