ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3987_3988del (p.Lys1330fs)

dbSNP: rs2151100918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV002260531 SCV002540215 likely pathogenic Treacher Collins syndrome 1 2022-01-06 criteria provided, single submitter clinical testing heterozygous

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