ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys)

gnomAD frequency: 0.00561  dbSNP: rs61744487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393577 SCV000468023 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001705529 SCV000519439 benign not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28688748)
Invitae RCV000536932 SCV000652581 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2024-01-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000437601 SCV000859533 likely benign not specified 2018-02-09 criteria provided, single submitter clinical testing

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