ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.245-8C>T

gnomAD frequency: 0.00038  dbSNP: rs537160602
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881721 SCV001024912 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501388 SCV002805805 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881721 SCV004125146 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CFH: BP4
Genome-Nilou Lab RCV003446521 SCV004172473 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446524 SCV004172474 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446523 SCV004172475 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446522 SCV004172476 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000881721 SCV005258750 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700486 SCV001923362 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000881721 SCV001930565 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000881721 SCV001968555 likely benign not provided no assertion criteria provided clinical testing

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