ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.651A>G (p.Ser217=)

gnomAD frequency: 0.00005  dbSNP: rs370179351
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955080 SCV001101762 likely benign Treacher Collins syndrome 1 2024-07-24 criteria provided, single submitter clinical testing

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