ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)

gnomAD frequency: 0.18278  dbSNP: rs2126082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000401492 SCV000340433 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV001651316 SCV001862715 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651316 SCV005312862 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602719 SCV000733807 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000401492 SCV001923616 benign not specified no assertion criteria provided clinical testing

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