ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.362G>T (p.Arg121Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041180 SCV005680175 uncertain significance Congenital lipoid adrenal hyperplasia due to STAR deficency 2024-03-07 criteria provided, single submitter clinical testing

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