ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000894052 SCV000718102 benign not provided 2019-05-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000609621 SCV000858230 benign not specified 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV000894052 SCV001038017 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
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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