ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.953T>A (p.Met318Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV005052927 SCV005627760 uncertain significance Aromatase deficiency 2025-01-06 criteria provided, single submitter clinical testing PM2_sup (not found in gnomAD), PP3_mod (bioinformatic evaluation predicts an effect on splicing and the REVEL-score for the amino acid exchange is 0,79)

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