ClinVar Miner

Submissions for variant NM_000107.3(DDB2):c.1235-32A>G

gnomAD frequency: 0.40443  dbSNP: rs901746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540501 SCV001758392 benign not provided 2019-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658262 SCV001876580 benign Xeroderma pigmentosum, group E 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540501 SCV005320272 benign not provided criteria provided, single submitter not provided

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