ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=)

gnomAD frequency: 0.00009  dbSNP: rs2304461
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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 RCV000925428 SCV001070964 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118481 SCV001276761 benign Aromatase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV001118481 SCV001460853 benign Aromatase deficiency 2020-01-11 no assertion criteria provided clinical testing

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