ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.563G>A (p.Arg188His)

gnomAD frequency: 0.00005  dbSNP: rs61736315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668498 SCV000793113 uncertain significance Congenital lipoid adrenal hyperplasia due to STAR deficency 2017-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000668498 SCV002797607 uncertain significance Congenital lipoid adrenal hyperplasia due to STAR deficency 2022-05-17 criteria provided, single submitter clinical testing

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