ClinVar Miner

Submissions for variant NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) (rs139525250)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120885 SCV000332974 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000988531 SCV000371834 likely benign Multiple exostoses type 2 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000120885 SCV000728394 likely benign not specified 2017-11-24 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 RCV000988531 SCV001001497 benign Multiple exostoses type 2 2020-11-28 criteria provided, single submitter clinical testing
Mendelics RCV000988531 SCV001138279 likely benign Multiple exostoses type 2 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120885 SCV000085053 not provided not specified 2013-09-19 no assertion provided reference population

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