ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del)

dbSNP: rs747574884
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729908 SCV000857607 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001397059 SCV001598799 likely benign Axenfeld-Rieger syndrome type 3 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000729908 SCV001942720 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000729908 SCV004158210 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FOXC1: BS1

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