ClinVar Miner

Submissions for variant NM_020223.4(FAM20C):c.1218T>A (p.Pro406=)

gnomAD frequency: 0.02734  dbSNP: rs144007479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609432 SCV000711805 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro406Pro in exon 6 of FAM20C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 3.57% (215/6028) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs144007479).
Labcorp Genetics (formerly Invitae), Labcorp RCV001515725 SCV001723863 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001515725 SCV002012784 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515725 SCV005226328 likely benign not provided criteria provided, single submitter not provided

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