ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) (rs138723423)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081099 SCV000113007 benign not specified 2014-02-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514490 SCV000609976 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720954 SCV000851838 benign History of neurodevelopmental disorder 2017-06-27 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000514490 SCV001019065 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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