ClinVar Miner

Submissions for variant NM_001354930.2(RIPK1):c.1194G>C (p.Gln398His)

gnomAD frequency: 0.00006  dbSNP: rs34457341
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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 RCV001331109 SCV001523057 uncertain significance Immunodeficiency 57 2019-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070167 SCV002396793 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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