ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp)

gnomAD frequency: 0.00015  dbSNP: rs144170600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502341 SCV000594893 likely benign not specified 2015-11-16 criteria provided, single submitter clinical testing
Invitae RCV000964198 SCV001111389 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702790 SCV001933651 benign Intellectual disability, X-linked 104 2021-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902775 SCV004718578 benign FRMPD4-related condition 2019-08-09 criteria provided, single submitter 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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