ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.720G>C (p.Thr240=)

dbSNP: rs768179486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480288 SCV001684604 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495715 SCV002799000 likely benign Congenital lipoid adrenal hyperplasia due to STAR deficency 2022-05-04 criteria provided, single submitter clinical testing

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