ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala)

dbSNP: rs1389518788
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328914 SCV001520156 uncertain significance Joubert syndrome 18 2020-03-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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