ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1812G>A (p.Leu604=)

gnomAD frequency: 0.00013  dbSNP: rs118172671
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513539 SCV001721171 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709049 SCV005239545 benign not provided criteria provided, single submitter not provided

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