ClinVar Miner

Submissions for variant NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup)

dbSNP: rs536647518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960914 SCV001107943 benign not provided 2018-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505443 SCV002809282 likely benign Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 2022-04-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916036 SCV004732271 benign FRMD4A-related disorder 2019-05-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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