ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)

dbSNP: rs1719718448
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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 RCV001329601 SCV001521086 uncertain significance COACH syndrome 1 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003987833 SCV004804774 uncertain significance Joubert syndrome 9 2024-03-17 criteria provided, single submitter research

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