ClinVar Miner

Submissions for variant NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro)

gnomAD frequency: 0.35816  dbSNP: rs1801197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001642229 SCV001858681 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9675109)
Breakthrough Genomics, Breakthrough Genomics RCV001642229 SCV005271072 benign not provided criteria provided, single submitter not provided
OMIM RCV000019203 SCV000039491 risk factor Bone mineral density quantitative trait locus 15 1998-12-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974841 SCV004799109 benign CALCR-related disorder 2019-10-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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