ClinVar Miner

Submissions for variant NM_001288615.3(TTC23):c.456-1G>T

gnomAD frequency: 0.00001  dbSNP: rs772970039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001175230 SCV001338754 benign Orofaciodigital syndrome 2021-06-10 no assertion criteria provided research The variant is classified as “benign” and excluded based on familial segregation.

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