ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.151-109C>G

gnomAD frequency: 0.43888  dbSNP: rs3826287
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001645927 SCV001859991 benign not provided 2021-06-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796634 SCV002033594 benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001645927 SCV005252438 benign not provided criteria provided, single submitter not provided

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