ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.1349+13G>A

dbSNP: rs16970849
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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 RCV001515893 SCV001724070 benign Epidermodysplasia verruciformis 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001638108 SCV001851609 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487352 SCV004233930 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 43% of patients studied by a panel of primary immunodeficiencies. Number of patients: 38. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001638108 SCV005253043 benign not provided criteria provided, single submitter not provided

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