ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.759G>A (p.Lys253=)

gnomAD frequency: 0.00009  dbSNP: rs146000965
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408403 SCV001610403 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499874 SCV002805830 likely benign Congenital lipoid adrenal hyperplasia due to STAR deficency 2021-12-20 criteria provided, single submitter clinical testing

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