ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys)

gnomAD frequency: 0.00001  dbSNP: rs746560886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779605 SCV002015291 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001885144 SCV002211048 likely benign Treacher Collins syndrome 1 2025-01-31 criteria provided, single submitter clinical testing

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