ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.741C>G (p.Leu247=)

gnomAD frequency: 0.01254  dbSNP: rs7049642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887304 SCV001030854 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501430 SCV002807485 likely benign Intellectual disability, X-linked 104 2021-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000887304 SCV005279140 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910504 SCV004726694 benign FRMPD4-related disorder 2019-03-20 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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