ClinVar Miner

Submissions for variant NC_000017.11:g.75834356_75834365delinsTCGGACAAGGTA

dbSNP: rs1567818219
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 RCV000686295 SCV000813807 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000686295 SCV005651929 likely pathogenic Familial hemophagocytic lymphohistiocytosis 3 2024-03-18 criteria provided, single submitter clinical testing

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