ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=)

gnomAD frequency: 0.00002  dbSNP: rs774007712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914156 SCV001059319 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000914156 SCV002571494 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001275589 SCV001460855 uncertain significance Aromatase deficiency 2020-01-24 no assertion criteria provided clinical testing

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