ClinVar Miner

Submissions for variant NM_015030.2(FRYL):c.1224del (p.Lys409fs)

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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, University of Leipzig Medical Center RCV003322708 SCV004027770 pathogenic FRYL-associated neurodevelopmental disorder 2023-07-24 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_SUP,PM2_SUP
Wendy Chung Laboratory, Columbia University Medical Center RCV004597573 SCV004244425 uncertain significance FRYL-related developmental disorder 2024-02-02 criteria provided, single submitter clinical testing

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