ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.171G>C (p.Pro57=)

gnomAD frequency: 0.00024  dbSNP: rs188085399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173252 SCV000224348 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516581 SCV001016937 likely benign Axenfeld-Rieger syndrome type 3 2023-08-28 criteria provided, single submitter clinical testing

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