ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)

gnomAD frequency: 0.00003  dbSNP: rs80051519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000019399 SCV003807717 likely pathogenic Aromatase deficiency 2022-07-29 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 supporting, PM2 moderated, PM3 supporting, PP3 supporting
OMIM RCV000019399 SCV000039689 pathogenic Aromatase deficiency 1997-07-10 no assertion criteria provided literature only

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