ClinVar Miner

Submissions for variant NM_032892.5(FRMD5):c.1637A>G (p.Tyr546Cys)

dbSNP: rs1006096376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV002279919 SCV002564148 uncertain significance Neurodevelopmental delay 2022-08-19 criteria provided, single submitter clinical testing
OMIM RCV002294529 SCV002587810 pathogenic Neurodevelopmental disorder with eye movement abnormalities and ataxia 2022-10-27 no assertion criteria provided literature only

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