ClinVar Miner

Submissions for variant NM_213653.4(HJV):c.1068T>C (p.Ala356=)

gnomAD frequency: 0.00009  dbSNP: rs148998327
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 RCV000863655 SCV001004351 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830868 SCV002085770 likely benign Hemochromatosis type 2A 2020-09-22 no assertion criteria provided clinical testing

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