ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13699C>T (p.Leu4567Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005304243 SCV005956368 uncertain significance Inborn genetic diseases 2025-01-17 criteria provided, single submitter clinical testing The c.13699C>T (p.L4567F) alteration is located in exon 63 (coding exon 62) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 13699, causing the leucine (L) at amino acid position 4567 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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