ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) (rs147706410)

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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 RCV000080216 SCV000112111 likely benign not specified 2017-02-17 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509287 SCV000607063 not provided Kabuki syndrome 1 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.
Illumina Clinical Services Laboratory,Illumina RCV000296136 SCV000379224 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing

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