ClinVar Miner

Submissions for variant NM_014026.6(DCPS):c.791G>A (p.Arg264Gln)

gnomAD frequency: 0.00029  dbSNP: rs140377449
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Total submissions: 2
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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 RCV000439539 SCV000511762 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000439539 SCV001023372 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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