ClinVar Miner

Submissions for variant NM_016519.6(AMBN):c.295T>C (p.Tyr99His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004096051 SCV003561684 uncertain significance not specified 2023-12-15 criteria provided, single submitter clinical testing The c.295T>C (p.Y99H) alteration is located in exon 6 (coding exon 6) of the AMBN gene. This alteration results from a T to C substitution at nucleotide position 295, causing the tyrosine (Y) at amino acid position 99 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003389268 SCV003923338 likely pathogenic Amelogenesis imperfecta type 1F 2023-05-04 no assertion criteria provided research

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