ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.25C>T (p.Arg9Trp)

gnomAD frequency: 0.00037  dbSNP: rs140441389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243720 SCV001416896 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568571 SCV003715066 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.25C>T (p.R9W) alteration is located in exon 1 (coding exon 1) of the PDE6B gene. This alteration results from a C to T substitution at nucleotide position 25, causing the arginine (R) at amino acid position 9 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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