ClinVar Miner

Submissions for variant NM_018191.4(RCBTB1):c.1017C>G (p.Pro339=)

dbSNP: rs3751384
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513966 SCV001721682 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001513966 SCV001902320 benign not provided 2019-05-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796534 SCV002033480 benign RCBTB1-related retinopathy 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513966 SCV005230313 benign not provided criteria provided, single submitter not provided

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