ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.42-18C>T

gnomAD frequency: 0.02503  dbSNP: rs2227599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV002106445 SCV004037402 benign Hereditary antithrombin deficiency 2023-07-25 reviewed by expert panel curation The NM_000488.4:c.42-18C>T variant is reported at a popmax FAF of 0.0771 and the highest MAF of 0.08248 (8%; 1996/24200 alleles with 85 homozygotes) in the African/African American population in gnomAD v2.1.1, meeting criteria for BA1 (MAF >0.002). The variant is reported in 2 individuals with normal antithrombin levels. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BA1, BS2.
Labcorp Genetics (formerly Invitae), Labcorp RCV002106445 SCV002440745 benign Hereditary antithrombin deficiency 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714381 SCV005288539 benign not provided criteria provided, single submitter not provided

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