ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.561+19C>T

gnomAD frequency: 0.43234  dbSNP: rs2281954
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511053 SCV001718234 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001511053 SCV001865504 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243260 SCV002514236 benign Cutaneous porphyria 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511053 SCV005322510 benign not provided criteria provided, single submitter not provided

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