ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6225G>A (p.Ser2075=)

gnomAD frequency: 0.00192  dbSNP: rs75737363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000625653 SCV001001462 benign Imerslund-Grasbeck syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001775929 SCV002012734 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001775929 SCV005226987 likely benign not provided criteria provided, single submitter not provided
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625653 SCV000746156 uncertain significance Imerslund-Grasbeck syndrome 2017-10-09 no assertion criteria provided clinical testing

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