ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.513T>C (p.Leu171=) (rs748319770)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000975716 SCV001123605 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023604 SCV001185506 likely benign Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001433717 SCV001636512 likely benign Hereditary melanoma 2018-10-09 criteria provided, single submitter clinical testing

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