ClinVar Miner

Submissions for variant NM_017429.3(BCO1):c.1622G>A (p.Cys541Tyr)

gnomAD frequency: 0.00604  dbSNP: rs141781255
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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 RCV000420606 SCV000511096 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000420606 SCV001118496 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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