ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.-244C>T (rs185790394)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University RCV000162083 SCV000212082 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Reproductive Health Research and Development,BGI Genomics RCV000991164 SCV001142352 benign Anterior segment dysgenesis 3 2020-01-06 no assertion criteria provided curation NG_009368.1(NM_001453.2):c.-244C>T in FOXC1 gene has an allele frequency of 0.041 in European (non-Finnish) subpopulation in the gnomAD database, including 27 homozygous occurrences. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2.

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