ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) (rs139258361)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239190 SCV000297160 uncertain significance not specified 2015-11-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733660 SCV000861750 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509335 SCV000606923 not provided Deafness no assertion provided phenotyping only 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000239190 SCV000966432 likely benign not specified 2018-10-29 criteria provided, single submitter clinical testing The p.Phe444Leu variant in EPS8 is classified as likely benign because it has be en identified in 0.1% (34/34404) of Latino chromosomes by gnomAD (http://gnomad. broadinstitute.org), and computational prediction tools and conservation analysi s suggest that this variant may not impact the protein. ACMG/AMP Criteria applie d: BS1_Supporting, BP4.

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