ClinVar Miner

Submissions for variant NM_004048.4(B2M):c.68-13C>T

gnomAD frequency: 0.00032  dbSNP: rs149900092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002128507 SCV002455454 likely benign Hypoproteinemia, hypercatabolic 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480991 SCV002803625 likely benign Familial visceral amyloidosis, Ostertag type; Hypoproteinemia, hypercatabolic 2021-07-20 criteria provided, single submitter clinical testing

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