ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.435C>T (p.Asn145=) (rs35628352)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118333 SCV000303093 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000118333 SCV000524735 benign not specified 2016-03-03 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.
Invitae RCV001084225 SCV000634383 benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000524864 SCV001145598 benign not provided 2019-03-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111148 SCV001268664 benign Sarcoglycanopathy 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000118333 SCV000152727 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001084225 SCV001455349 benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2020-09-16 no assertion criteria provided clinical testing

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