ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.220+42C>T

gnomAD frequency: 0.44408  dbSNP: rs3743582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000843207 SCV000985240 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001730736 SCV001981382 benign Charcot-Marie-Tooth disease type 1C 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000843207 SCV005289650 benign not provided criteria provided, single submitter not provided

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