ClinVar Miner

Submissions for variant NM_024599.5(RHBDF2):c.-297C>T

gnomAD frequency: 0.00146  dbSNP: rs571688447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000396237 SCV000483672 likely benign Palmoplantar keratoderma-esophageal carcinoma syndrome 2016-06-14 criteria provided, single submitter clinical testing

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