ClinVar Miner

Submissions for variant NM_001555.5(IGSF1):c.2407dup (p.His803fs)

dbSNP: rs1603404297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995567 SCV001149809 pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement 2019-04-04 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000995567 SCV002577527 likely pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement 2021-11-15 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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