ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.821-2A>G

dbSNP: rs1590955042
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994674 SCV001148350 likely pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing

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