ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.1714G>A (p.Ala572Thr) (rs1281778614)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624890 SCV000742787 uncertain significance Inborn genetic diseases 2017-08-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Baylor Miraca Genetics Laboratories, RCV000680126 SCV000807569 uncertain significance Joubert syndrome 6 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory in trans with another variant (F590S) in a 7-year-old female with a clinical diagnosis of Joubert syndrome.

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