ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6731G>A (p.Ser2244Asn)

gnomAD frequency: 0.00003  dbSNP: rs146333152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002491580 SCV002777630 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491580 SCV003524174 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695136 SCV005187832 uncertain significance not provided criteria provided, single submitter not provided

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