ClinVar Miner

Submissions for variant NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro)

dbSNP: rs763515150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000999463 SCV001523123 pathogenic Catifa syndrome 2020-06-19 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000999463 SCV005016629 uncertain significance Catifa syndrome 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000999463 SCV001156135 pathogenic Catifa syndrome 2020-02-06 no assertion criteria provided literature only

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