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: 4
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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
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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