ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1488+3G>A

gnomAD frequency: 0.00001  dbSNP: rs370220288
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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 RCV002882270 SCV003242291 likely benign Treacher Collins syndrome 1 2023-08-30 criteria provided, single submitter clinical testing

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