ClinVar Miner

Submissions for variant NM_005060.4(RORC):c.990C>T (p.Tyr330=)

gnomAD frequency: 0.00185  dbSNP: rs61754474
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652792 SCV000774663 benign Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703228 SCV004009875 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing RORC: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001703228 SCV005286278 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703228 SCV001931289 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703228 SCV001975456 likely benign not provided no assertion criteria provided clinical testing

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