ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.1995G>A (p.Ala665=)

gnomAD frequency: 0.03715  dbSNP: rs11549119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345205 SCV000341551 benign not specified 2016-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000841184 SCV000983142 benign not provided 2018-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000841184 SCV005312884 benign not provided criteria provided, single submitter not provided

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