ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.983dup (p.Arg329fs)

dbSNP: rs1949141890
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093168 SCV001250018 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469292 SCV004197985 likely pathogenic Senior-Loken syndrome 5 2023-03-31 criteria provided, single submitter clinical testing

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