ClinVar Miner

Submissions for variant NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del)

dbSNP: rs71369530
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624973 SCV000743223 likely benign Bamforth-Lazarus syndrome 2016-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499014 SCV002810743 likely benign Bamforth-Lazarus syndrome; Thyroid cancer, nonmedullary, 4 2021-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573581 SCV004158420 benign not provided 2024-04-01 criteria provided, single submitter clinical testing FOXE1: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573581 SCV001799681 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700261 SCV001923535 benign not specified no assertion criteria provided clinical testing

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