ClinVar Miner

Submissions for variant NM_138927.4(SON):c.5662_5666del (p.Lys1888fs)

dbSNP: rs2145838966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420343 SCV001622763 pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PVS1_very strong;PM2_supporting;PM6_moderate
Institute of Human Genetics, University Hospital of Duesseldorf RCV004527425 SCV005038706 likely pathogenic ZTTK syndrome criteria provided, single submitter not provided

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