ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)

dbSNP: rs886042554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000317087 SCV000334973 pathogenic not provided 2015-09-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330286 SCV001521925 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2019-11-05 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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