ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3084C>T (p.His1028=)

dbSNP: rs2151010757
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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 RCV002186721 SCV002343879 likely benign Treacher Collins syndrome 1 2022-07-19 criteria provided, single submitter clinical testing

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