ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1804G>A (p.Glu602Lys)

dbSNP: rs1763649950
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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 RCV002152023 SCV002419772 likely benign Treacher Collins syndrome 1 2022-03-02 criteria provided, single submitter clinical testing

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