ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln)

gnomAD frequency: 0.00001  dbSNP: rs782726788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334725 SCV001527651 uncertain significance Ritscher-Schinzel syndrome 2 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001334725 SCV002790857 uncertain significance Ritscher-Schinzel syndrome 2 2022-03-07 criteria provided, single submitter clinical testing

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