ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg)

gnomAD frequency: 0.00049  dbSNP: rs201537012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000987621 SCV001100960 likely benign Treacher Collins syndrome 1 2025-01-06 criteria provided, single submitter clinical testing
Mendelics RCV000987621 SCV001137009 likely benign Treacher Collins syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000954332 SCV001146128 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000954332 SCV002031202 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
PreventionGenetics, part of Exact Sciences RCV004746177 SCV005345590 likely benign TCOF1-related disorder 2024-08-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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