ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.255G>A (p.Ser85=)

gnomAD frequency: 0.00001  dbSNP: rs771777470
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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 RCV003647122 SCV004559111 likely benign Treacher Collins syndrome 1 2024-01-25 criteria provided, single submitter clinical testing

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