ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.243C>T (p.His81=) (rs115841867)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514047 SCV000610375 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV001080042 SCV000641726 benign Lethal multiple pterygium syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000116731 SCV000721857 benign not specified 2018-01-12 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 RCV000116731 SCV000150705 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.

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