ClinVar Miner

Submissions for variant NM_001376571.1(MADD):c.1115C>T (p.Pro372Leu)

dbSNP: rs147713337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255978 SCV001432755 uncertain significance MADD-related disorder 2020-07-22 criteria provided, single submitter clinical testing This individual has been published in PMID: 32761064.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989660 SCV004807614 uncertain significance Deeah syndrome 2024-03-29 criteria provided, single submitter clinical testing

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