ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.1609G>A (p.Glu537Lys)

gnomAD frequency: 0.00001  dbSNP: rs146547758
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Total submissions: 1
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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 RCV000418188 SCV000511783 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.

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