ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.104A>G (p.His35Arg) (rs71532816)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000609621 SCV000858230 benign not specified 2017-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000609621 SCV000718102 likely benign not specified 2018-03-06 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.
GenomeConnect, ClinGen RCV000844977 SCV000986803 not provided DEAFNESS, AUTOSOMAL RECESSIVE 106 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03/06/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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