ClinVar Miner

Submissions for variant NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002465472 SCV002760170 pathogenic Hypomagnesemia 7, renal, with or without dilated cardiomyopathy 2022-12-08 no assertion criteria provided literature only
Undiagnosed Diseases Network, NIH RCV003164720 SCV003915636 pathogenic RRAGD-related disorder 2022-11-08 no assertion criteria provided clinical testing
Undiagnosed Diseases Network, NIH RCV002465472 SCV004812016 pathogenic Hypomagnesemia 7, renal, with or without dilated cardiomyopathy 2022-11-08 no assertion criteria provided clinical testing

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