ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.738C>T (p.Asp246=)

gnomAD frequency: 0.00006  dbSNP: rs758031518
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001472902 SCV001677043 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495702 SCV002795954 likely benign Congenital lipoid adrenal hyperplasia due to STAR deficency 2021-07-19 criteria provided, single submitter clinical testing

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