ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=)

gnomAD frequency: 0.00008  dbSNP: rs374769118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000943563 SCV001089513 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104162 SCV001261004 uncertain significance Deficiency of steroid 17-alpha-monooxygenase 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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