ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) (rs148293985)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176340 SCV000227979 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428732 SCV000511658 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000176340 SCV000521261 likely benign not specified 2017-06-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000176340 SCV000593211 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
Invitae RCV001082354 SCV000645916 likely benign Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000428732 SCV000692707 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105586 SCV001262570 uncertain significance ANO5-Related Muscle Diseases 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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