ClinVar Miner

Submissions for variant NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe)

gnomAD frequency: 0.00396  dbSNP: rs146036604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000433218 SCV000510791 likely benign not provided 2017-02-03 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000433218 SCV001031253 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000433218 SCV001820255 likely benign not provided 2018-12-09 criteria provided, single submitter clinical testing

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