ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs)

dbSNP: rs1376687924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987268 SCV001136520 pathogenic Ververi-Brady syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000987268 SCV002044382 pathogenic Ververi-Brady syndrome 2021-12-21 criteria provided, single submitter research

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