ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2554+17G>A

gnomAD frequency: 0.02896  dbSNP: rs35593818
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000391762 SCV000337482 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520184 SCV001729239 benign Deficiency of ferroxidase 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001589315 SCV001824042 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520184 SCV001876290 benign Deficiency of ferroxidase 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001589315 SCV005260899 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000391762 SCV001808610 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000391762 SCV001960104 benign not specified no assertion criteria provided clinical testing

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