ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4346-17T>A

gnomAD frequency: 0.00195  dbSNP: rs76350524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002085633 SCV002380132 benign Treacher Collins syndrome 1 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002085633 SCV002795448 likely benign Treacher Collins syndrome 1 2021-09-16 criteria provided, single submitter clinical testing

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